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NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile) AND Charcot-Marie-Tooth disease

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001027464.1

Allele description [Variation Report for NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)]

NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)

Gene:
DYNC1H1:dynein cytoplasmic 1 heavy chain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.31
Genomic location:
Preferred name:
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
HGVS:
  • NC_000014.9:g.101986137G>A
  • NG_008777.1:g.26610G>A
  • NM_001376.5:c.1912G>AMANE SELECT
  • NP_001367.2:p.Val638Ile
  • NC_000014.8:g.102452474G>A
  • NM_001376.4:c.1912G>A
Protein change:
V638I
Links:
dbSNP: rs1383117534
NCBI 1000 Genomes Browser:
rs1383117534
Molecular consequence:
  • NM_001376.5:c.1912G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190032Inherited Neuropathy Consortium
no assertion criteria provided
Likely pathogenicinheritedprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Inherited Neuropathy Consortium, SCV001190032.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024