ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3814G>C (p.Asp1272His)

dbSNP: rs766636473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236234 SCV001408949 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1272 of the PCDH15 protein (p.Asp1272His). This variant is present in population databases (rs766636473, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 962385). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004960606 SCV005470216 uncertain significance Inborn genetic diseases 2024-11-28 criteria provided, single submitter clinical testing The c.3814G>C (p.D1272H) alteration is located in exon 29 (coding exon 28) of the PCDH15 gene. This alteration results from a G to C substitution at nucleotide position 3814, causing the aspartic acid (D) at amino acid position 1272 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001834052 SCV002094829 uncertain significance Usher syndrome type 1F 2020-01-24 no assertion criteria provided clinical testing

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