ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.383-33CTCTCTAT[4]

dbSNP: rs727504998
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000367765 SCV000341231 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing
Counsyl RCV000664732 SCV000788739 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2017-01-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233538 SCV003931835 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233539 SCV003931836 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235179 SCV003934456 benign not specified 2023-05-16 criteria provided, single submitter clinical testing Variant summary: SGCD c.383-17_383-10dupCTCTCTAT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00015 in 277680 control chromosomes, including 1 homozygote (gnomAD and jMorp databases (Tadaka_2021)). The observed variant frequency is approximately 9.68 fold of the estimated maximal expected allele frequency for a pathogenic variant in SGCD causing Dilated Cardiomyopathy phenotype (1.6e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.383-17_383-10dupCTCTCTAT in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. The following publication was ascertained in the context of this evaluation (PMID: 33179747). Two ClinVar submitters (evaluation after 2014) have cited the variant, and both submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as benign.

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