ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.604del (p.Ala202fs)

dbSNP: rs1553644155
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000500936 SCV000592365 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The p.Ala202LeufsX27 variant has not been previously reported in the literature. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 202 and leads to a premature stop codon, 27 codons downstream. This alteration is then predicted to lead to a truncated or absent protein and loss of function. Loss of function variants are an established mechanism of disease for the MLH1 gene and is the type of alteration expected to cause Lynch syndrome. In summary, based on the above information, this variant is classified as pathogenic.

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