ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1557del (p.Phe519fs)

dbSNP: rs1553366554
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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 RCV002404307 SCV002705585 pathogenic Hereditary cancer-predisposing syndrome 2018-09-11 criteria provided, single submitter clinical testing The c.1557delT pathogenic mutation, located in coding exon 10 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1557, causing a translational frameshift with a predicted alternate stop codon (p.F519Lfs*7). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000503989 SCV000592507 pathogenic not provided no assertion criteria provided clinical testing This is the type of variant expected to cause the disorder.

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