ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3100C>T (p.Arg1034Cys)

gnomAD frequency: 0.00001  dbSNP: rs780335938
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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 RCV001312657 SCV001503119 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1034 of the PCDH15 protein (p.Arg1034Cys). This variant is present in population databases (rs780335938, gnomAD 0.02%). 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: 1013987). 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: "Possibly 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 RCV004960740 SCV005470204 uncertain significance Inborn genetic diseases 2024-08-02 criteria provided, single submitter clinical testing The c.3100C>T (p.R1034C) alteration is located in exon 23 (coding exon 22) of the PCDH15 gene. This alteration results from a C to T substitution at nucleotide position 3100, causing the arginine (R) at amino acid position 1034 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835531 SCV002093023 uncertain significance Usher syndrome type 1F 2020-02-06 no assertion criteria provided clinical testing

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