ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.811C>T (p.Arg271Cys)

dbSNP: rs1380858784
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660218 SCV000782218 pathogenic Waardenburg syndrome type 1 2016-11-01 criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000660218 SCV001478203 pathogenic Waardenburg syndrome type 1 2019-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000660218 SCV001520004 pathogenic Waardenburg syndrome type 1 2019-12-06 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001861717 SCV002241278 pathogenic not provided 2021-07-17 criteria provided, single submitter clinical testing This variant disrupts the p.Arg271 amino acid residue in PAX3. Other variant(s) that disrupt this residue have been observed in individuals with PAX3-related conditions (PMID: 9654197, 8589691), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. 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"). This variant has been observed in individual(s) with autosomal dominate Waardenburg syndrome (PMID: 8589691, 8799378, 9654197, 20199465). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 547748). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 271 of the PAX3 protein (p.Arg271Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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