ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1383T>G (p.Asp461Glu)

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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 RCV004654405 SCV005141909 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-24 criteria provided, single submitter clinical testing The p.D461E variant (also known as c.1383T>G), located in coding exon 8 of the MSH2 gene, results from a T to G substitution at nucleotide position 1383. The aspartic acid at codon 461 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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