ClinVar Miner

Submissions for variant NM_001134707.2(SARDH):c.1442G>A (p.Arg481His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447749 SCV004175446 uncertain significance Sarcosine dehydrogenase deficiency 2023-02-20 criteria provided, single submitter clinical testing The SARDH c.1442G>A variant is classified as VUS (PM3_supporting, PP3, PP4). The SARDH c.1442G>A variant is a single nucleotide change in exon 11/21 of the SARDH gene, which is predicted to change the amino acid arginine at position 481 in the protein to histidine. This variant is homozygous in this patient (PM3_supporting). Computational predictions support a deleterious effect on the gene or gene product (PP3). This variant has been reported in dbSNP (rs35699831) and in GnomAD (highest MAF: 0.15%). It has not been reported in ClinVar, HGMD or LOVD. The variant has not been reported in the scientific literature to date. This patient's phenotype is specific for a variant in the SARDH gene (PP4).

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