ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.242_244del (p.Gly81del) (rs794729165)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183904 SCV000236388 uncertain significance not provided 2012-09-04 criteria provided, single submitter clinical testing The c.242_244delGAG variant in the SGCD gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The c.242_244delGAG variant results in an in-frame deletion of a single Glycine residue at a position that is highly conserved across species. However, an in-frame deletion affecting a different region of this gene, (c.712_714delAAG) ha been reported in association with cardiomyopathy (Tsubata S et al., 2000). With the clinical and molecular information available at this time, we cannot definitively determine if c.242_244delGAG is a pathogenic variant or a rare benign variant.

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