ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala)

gnomAD frequency: 0.00169  dbSNP: rs139915181
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Total submissions: 3
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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 RCV000155268 SCV000204954 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Val1578Ala in Exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (13/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs139915181).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757598 SCV000885891 likely benign not provided 2017-08-14 criteria provided, single submitter clinical testing The c.4733T>C; p.Val1578Ala variant (rs139915181) has not been reported in the medical literature, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.5 percent in the African population (identified on 122 out of 24,028 chromosomes), and reported to ClinVar as likely benign (Variation ID: 178520). The valine at position 1578 is weakly conserved considering 12 species (Alamut v2.9.0) and computational analyses of the p.Val1578Ala variant on protein structure and function indicate a neutral effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Altogether the p.Val1578Ala variant is likely to be benign.
Invitae RCV000757598 SCV001027236 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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