ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.538A>T (p.Thr180Ser)

dbSNP: rs1187720404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001093560 SCV000999127 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
GeneDx RCV001772154 SCV002001950 uncertain significance not provided 2020-02-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003233866 SCV003931870 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233867 SCV003931871 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing

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