ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.4-1G>A (rs1554094927)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000755689 SCV000883103 uncertain significance Dilated cardiomyopathy 1L 2018-11-21 criteria provided, single submitter clinical testing
Invitae RCV000639550 SCV000761126 pathogenic Limb-girdle muscular dystrophy, type 2F 2017-08-31 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the SGCD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SGCD-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. A different variant affecting this nucleotide (c.4-1G>A) has been determined to be pathogenic (Invitae). This suggests that this nucleotide is important for normal RNA splicing, and that other variants at this position may also be pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SGCD are known to be pathogenic (PMID: 8841194, 10735275, 10838250). For these reasons, this variant has been classified as Pathogenic.

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