ClinVar Miner

Submissions for variant NM_001218.5(CA12):c.954_955TG[1] (p.Val319fs) (rs757974800)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneID Lab - Advanced Molecular Diagnostics RCV000680444 SCV000807817 likely pathogenic Hyperchlorhidrosis, isolated 2018-03-10 criteria provided, single submitter clinical testing This variant deletes two nucleotides resulting in an amino acid alteration, replacing a valine (V) with a glycine (G) at codon 319 creating a premature stop signal in the new reading frame noted as p.V319Gfs*17. The substitution is predicted to result in a non-functional CA12 protein, either through protein truncation or nonsense-mediated mRNA decay. This mutation is considered a non-tolerated amino acid change based on in silico prediction algorithms (disease causing), it has not been reported in the ClinVar Database (NCBI National Library of Medicine, NIH), but it has been described in 27 alleles out of 120522, in the ExAC database, all of them belonging to heterozygous carries of Latino origin. Based on these findings and the limited literature regarding this substitution we consider it as a likely pathogenic variant.

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