NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser) AND Leber congenital amaurosis with early-onset deafness

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 14, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001837733.3

Allele description [Variation Report for NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser)]

NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser)

Gene:

TUBB4B:tubulin beta 4B class IVb [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser)

Other names:

p.P358S

HGVS:

NC_000009.12:g.137243290C>T
NM_006088.6:c.1072C>TMANE SELECT
NP_006079.1:p.Pro358Ser
NC_000009.11:g.140137742C>T
NM_006088.5:c.1072C>T

Protein change:

P358S

Links:

dbSNP: rs2131435194

NCBI 1000 Genomes Browser:

rs2131435194

Molecular consequence:

NM_006088.6:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Leber congenital amaurosis with early-onset deafness
Identifiers:: MONDO: MONDO:0060650; MedGen: C4693498; OMIM: 617879

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002098351	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 14, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003836299	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 14, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002098351

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 14, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV003836299

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 14, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	1	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV002098351.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	1	not provided

From Baylor Genetics, SCV003836299.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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