ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.47_53del (p.Val16fs) (rs876658923)

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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 RCV000219515 SCV000274776 pathogenic Hereditary cancer-predisposing syndrome 2015-03-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion)
GeneDx RCV000657501 SCV000779236 pathogenic not provided 2018-04-03 criteria provided, single submitter clinical testing This deletion of seven nucleotides in MLH1 is denoted c.47_53delTGAACCG at the cDNA level and p.Val16AlafsX18 (V16AfsX18) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GTGG[delTGAACCG]CATC. The deletion causes a frameshift which changes a Valine to an Alanine at codon 16, and creates a premature stop codon at position 18 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. We consider this variant to be pathogenic.

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