ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.1169A>G (p.Asn390Ser) (rs397517450)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039696 SCV000063385 uncertain significance not specified 2010-10-07 criteria provided, single submitter clinical testing The Asn390Ser variant in PCDH15 has not been reported in the literature nor prev iously identified by our laboratory. This residue is conserved across species an d computational analyses (homology, PolyPhen, SIFT, AlignGVGD) suggest that the Asn390Ser variant may impact the protein. However, this information is not predi ctive enough to assume pathogenicity. It should be noted that this lab has only sequenced the PCDH15 in 170 patients and limited controls such that the full spe ctrum of benign variation has not yet been defined for this gene, increasing the possibility that this may be a benign variant. In summary, the clinical signifi cance of this variant cannot be determined with certainty at this time.
Illumina Clinical Services Laboratory,Illumina RCV001103159 SCV001259880 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.

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