ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.192+4A>G (rs750150347)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481291 SCV000565559 likely pathogenic not provided 2013-01-15 criteria provided, single submitter clinical testing The c.192+4 A>G variant has not been reported as pathogenic or as a benign polymorphism to our knowledge. This variant is predicted by two splice algorithms to destroy the splice donor site in intron 3 and is predicted to cause abnormal gene splicing. The variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, no splice site mutations in the SGCD gene have been reported in association with cardiomyopathy (Stenson P et al., 2009). In summary, while c.192+4 A>G is a good candidate for a pathogenic variant, with the clinical and molecular information available at this time we cannot unequivocally determine its clinical significance.

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