ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.458C>T (p.Ser153Phe)

gnomAD frequency: 0.00001  dbSNP: rs766349734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022744 SCV001184514 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-23 criteria provided, single submitter clinical testing The p.S153F variant (also known as c.458C>T), located in coding exon 3 of the MSH2 gene, results from a C to T substitution at nucleotide position 458. The serine at codon 153 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is not well 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.
Invitae RCV001066450 SCV001231461 benign Hereditary nonpolyposis colorectal neoplasms 2023-10-09 criteria provided, single submitter clinical testing

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