ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.1757_1760del (p.Lys586fs) (rs1342399494)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657489 SCV000779224 pathogenic not provided 2018-03-19 criteria provided, single submitter clinical testing This deletion of four nucleotides in SMARCA4 is denoted c.1757_1760delAGAA at the cDNA level and p.Lys586ArgfsX26 (K586RfsX26) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GAAAA[delAGAA]GGTG. The deletion causes a frameshift which changes a Lysine to an Arginine at codon 586, and creates a premature stop codon at position 26 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. Although SMARCA4 c.1757_1760delAGAA has not been reported in the germline literature to our knowledge, a similar variant, SMARCA4 c.1757delA, p.Lys586fs, has been reported as a somatic variant in the homozygous state in a 15-year-old with small cell carcinoma of the ovary, hypercalcaemic type (Bailey 2015). We consider this variant to be pathogenic.

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