ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala)

gnomAD frequency: 0.00327  dbSNP: rs141671082
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155438 SCV000205128 benign not specified 2013-11-13 criteria provided, single submitter clinical testing Thr1515Ala in Exon 21A of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (48/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs141671082). In addition, the threonine (Th r) residue at position 1515 is poorly conserved across species with several mam mals (rat, mouse, kangaroo rat) having an alanine (Ala) at this position.
Labcorp Genetics (formerly Invitae), Labcorp RCV000897633 SCV001041788 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000155438 SCV001160311 benign not specified 2019-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000897633 SCV001830993 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516130 SCV003645933 likely benign Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003453178 SCV004182230 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001826839 SCV004182231 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826839 SCV002093895 likely benign Usher syndrome type 2A 2019-12-18 no assertion criteria provided clinical testing

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