ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.774G>T (p.Leu258Phe)

dbSNP: rs755965129
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043350 SCV001207087 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409402 SCV002672172 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-29 criteria provided, single submitter clinical testing The p.L258F variant (also known as c.774G>T), located in coding exon 4 of the MSH2 gene, results from a G to T substitution at nucleotide position 774. The leucine at codon 258 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002473173 SCV002770296 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18822302, 21120944)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117718 SCV003800692 uncertain significance not specified 2023-01-19 criteria provided, single submitter clinical testing

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