ClinVar Miner

Submissions for variant NM_001167912.2(VEPH1):c.418G>C (p.Gly140Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004877859 SCV005532825 uncertain significance not specified 2024-10-16 criteria provided, single submitter clinical testing The c.418G>C (p.G140R) alteration is located in exon 4 (coding exon 3) of the VEPH1 gene. This alteration results from a G to C substitution at nucleotide position 418, causing the glycine (G) at amino acid position 140 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genetics and Genomics Program, Sidra Medicine RCV004733995 SCV005367922 uncertain significance Congenital long QT syndrome no assertion criteria provided research The c.418G>C missense variant in VEPH1 is absent from population databases (PM2). ACMG codes: PM1, PM2.

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