ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)

gnomAD frequency: 0.00190  dbSNP: rs146462407
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Total submissions: 7
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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 RCV000041831 SCV000065527 likely benign not specified 2012-04-17 criteria provided, single submitter clinical testing Ile1207Ile in exon 17 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 0.5% (19/3738) of Africa n American chromosomes in a broad population by the NHLBI Exome sequencing proje ct (http://evs.gs.washington.edu/EVS/; dbSNP rs146462407).
Eurofins Ntd Llc (ga) RCV000041831 SCV000340699 benign not specified 2016-04-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341412 SCV000354127 uncertain significance Retinitis pigmentosa 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000394479 SCV000354128 uncertain significance Usher syndrome type 2A 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000974887 SCV001122758 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000974887 SCV001940530 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000394479 SCV002093927 likely benign Usher syndrome type 2A 2020-01-15 no assertion criteria provided clinical testing

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