ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.994A>G (p.Ser332Gly)

dbSNP: rs2082989247
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186118 SCV001352462 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001186118 SCV002528794 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-12 criteria provided, single submitter curation
Ambry Genetics RCV001186118 SCV002690099 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-07 criteria provided, single submitter clinical testing The p.S332G variant (also known as c.994A>G), located in coding exon 11 of the MLH1 gene, results from an A to G substitution at nucleotide position 994. The serine at codon 332 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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