ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1520_1521insTA (p.Leu507fs) (rs1553653135)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216066 SCV000279495 likely pathogenic not provided 2015-10-09 criteria provided, single submitter clinical testing This insertion of 2 nucleotides in MLH1 is denoted c.1520_1521insTA at the cDNA level and p.Leu507PhefsX29 (L507FfsX29) at the protein level. The normal sequence, with the bases that are inserted in braces, is GTTTT[TA]GAGT. The insertion causes a frameshift, which changes a Leucine to a Phenylalanine at codon 507, and creates a premature stop codon at position 29 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this insertion to be a likely pathogenic variant.

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