ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu)

gnomAD frequency: 0.00002  dbSNP: rs397517461
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Total submissions: 4
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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 RCV000039745 SCV000063434 likely benign not specified 2010-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature, but Ile1585 is not well co nserved, with dog having the variant amino acid (Leu) present at this position a nd chicken and frog having a Met. In addition, in silico analyses all predict th is change to be benign (PolyPhen, SIFT, and AlignGVGD). In summary, the availabl e data suggests this variant is most likely benign.
Illumina Laboratory Services, Illumina RCV000345143 SCV000363138 uncertain significance Usher syndrome type 1 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000928675 SCV001074289 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831686 SCV002089204 likely benign Usher syndrome type 1F 2020-09-03 no assertion criteria provided clinical testing

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