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NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004018734.2

Allele description [Variation Report for NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)]

NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)

Gene:
CRYAB:crystallin alpha B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)
HGVS:
  • NC_000011.10:g.111911559G>A
  • NG_009824.3:g.17164C>T
  • NG_033080.2:g.3824G>A
  • NM_001289807.1:c.166C>T
  • NM_001289808.2:c.166C>TMANE SELECT
  • NM_001368245.1:c.166C>T
  • NM_001885.3:c.166C>T
  • NP_001276736.1:p.Arg56Trp
  • NP_001276737.1:p.Arg56Trp
  • NP_001355174.1:p.Arg56Trp
  • NP_001876.1:p.Arg56Trp
  • LRG_407t1:c.166C>T
  • LRG_407t2:c.166C>T
  • LRG_407:g.17164C>T
  • LRG_407p1:p.Arg56Trp
  • LRG_407p2:p.Arg56Trp
  • NC_000011.9:g.111782283G>A
  • NG_009824.2:g.17164C>T
  • NG_033080.1:g.3824G>A
  • NM_001885.1:c.166C>T
Protein change:
R56W; ARG56TRP
Links:
OMIM: 123590.0010; dbSNP: rs387907338
NCBI 1000 Genomes Browser:
rs387907338
Molecular consequence:
  • NM_001289807.1:c.166C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289808.2:c.166C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368245.1:c.166C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001885.3:c.166C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005017974Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 16, 2024) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.

Safieh LA, Khan AO, Alkuraya FS.

Mol Vis. 2009 May 15;15:980-4.

PubMed [citation]
PMID:
19461931
PMCID:
PMC2684560

Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).

Khan AO, Abu Safieh L, Alkuraya FS.

Ophthalmic Genet. 2010 Mar;31(1):30-6. doi: 10.3109/13816810903452047. Erratum in: Ophthalmic Genet. 2010 Jun;31(2):101. Alkurarya, Fowzan S [corrected to Alkuraya, Fowzan S].

PubMed [citation]
PMID:
20141356
See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV005017974.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

The p.R56W variant (also known as c.166C>T), located in coding exon 1 of the CRYAB gene, results from a C to T substitution at nucleotide position 166. The arginine at codon 56 is replaced by tryptophan, an amino acid with dissimilar properties. This variant has been detected in the homozygous state in individuals from families affected with juvenile cataracts; however, it has also been detected in the homozygous and heterozygous states in individuals without juvenile cataracts, and has been reported as a relatively common allele in both case and control cohorts (Safieh LA et al. Mol Vis, 2009 May;15:980-4; Khan AO et al. Ophthalmic Genet, 2010 Mar;31:30-6; Cui XJ et al. Medicine (Baltimore), 2017 Jun;96:e7158). This variant has been detected in a cohort of patients with features of skeletal myopathies; however, clinical detail was not provided (Töpf A et al. Genet Med, 2020 Sep;22:1478-1488). Functional studies suggest this variant may impact some aspects of protein function; however, the physiological relevance of these findings are unclear (Raju I et al. Biochem Biophys Res Commun. 2013 Jan;430(1):107-12; Muranova LK et al. Exp Eye Res. 2020 Aug;197:108091). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024