ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.382C>T (p.Arg128Cys)

gnomAD frequency: 0.00001  dbSNP: rs762913745
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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 RCV002009910 SCV002261239 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with DVL1-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 128 of the DVL1 protein (p.Arg128Cys).
Fulgent Genetics, Fulgent Genetics RCV002492221 SCV002804014 uncertain significance Autosomal dominant Robinow syndrome 1; Autosomal dominant Robinow syndrome 2 2021-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004976059 SCV005576440 uncertain significance Inborn genetic diseases 2024-11-11 criteria provided, single submitter clinical testing The c.382C>T (p.R128C) alteration is located in exon 4 (coding exon 4) of the DVL1 gene. This alteration results from a C to T substitution at nucleotide position 382, causing the arginine (R) at amino acid position 128 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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