ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.294+1G>A (rs727503422)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673416 SCV000798616 likely pathogenic Dilated cardiomyopathy 1L; Limb-girdle muscular dystrophy, type 2F 2018-03-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151871 SCV000200354 likely pathogenic Neuromuscular Diseases 2014-09-29 criteria provided, single submitter clinical testing The 294+1G>A variant in SGCD has not been previously reported in individuals wit h cardiomyopathy or myopathy and was absent from large population studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequenc e and is predicted to cause altered splicing leading to an abnormal or absent pr otein. Homozygous LOF variants in the SGCD gene have been reported in autosomal recessive Limb-Girdle muscular dystrophy (LGMD; OMIM, Human Gene Mutation Databa se). The clinical significance of a heterozygous LOF variant for DCM in the abse nce of muscular dystrophy is unknown. In summary, although additional studies ar e required to fully establish its clinical significance, the 294+1G>A variant is likely pathogenic for Limb-Girdle muscular dystrophy in an autosomal recessive manner.

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