ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3732_3735dup (p.Ser1246fs) (rs1553333072)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486504 SCV000566245 pathogenic not provided 2018-12-03 criteria provided, single submitter clinical testing This duplication of four nucleotides in MSH6 is denoted c.3732_3735dupATTT at the cDNA level and p.Ser1246IlefsX30 (S1246IfsX30) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is CATT[dupATTT]TCAA. The duplication causes a frameshift which changes a Serine to an Isoleucine at codon 1246, and creates a premature stop codon at position 30 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. MSH6 c.3732_3735dupATTT has been reported in an unaffected individual undergoing multi-gene panel testing due to a family history of cancer (Roberts 2018). We consider this variant to be pathogenic.

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