ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.137G>A (p.Ser46Asn)

dbSNP: rs63749833
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001011261 SCV001171560 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-13 criteria provided, single submitter clinical testing The p.S46N variant (also known as c.137G>A), located in coding exon 2 of the MLH1 gene, results from a G to A substitution at nucleotide position 137. The serine at codon 46 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and asparagine is the reference amino acid in other vertebrate species. 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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