ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.400C>G (p.Arg134Gly) (rs137853003)

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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 RCV000211736 SCV000199883 likely pathogenic Rare genetic deafness 2013-12-15 criteria provided, single submitter clinical testing The Arg134Gly variant in PCDH15 has been previously identified in 2 unrelated Pa kistani individuals with nonsyndromic hearing loss, both of whom were homozygous , and was absent in 500 ethnically matched chromosomes (Ahmed 2003, Ahmed 2008). In addition, the variant segregated in 4 affected family members, and all affec ted individuals were reported to have hearing loss and normal electroretinograms (Ahmed 2003, Ahmed 2008). Computational analyses (biochemical amino acid proper ties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong suppor t for or against an impact to the protein. In summary, this variant is likely to be pathogenic, though additional familial or functional studies are required to fully establish its clinical significance.
OMIM RCV000005222 SCV000025400 pathogenic Deafness, autosomal recessive 23 2003-12-15 no assertion criteria provided literature only

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