ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.32G>A (p.Arg11Gln) (rs752548592)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000211553 SCV000212182 uncertain significance Primary dilated cardiomyopathy 2015-03-11 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724012 SCV000228859 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000724012 SCV000236389 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing The R11Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge.This variant is observed in 2/9744 (0.02%) alleles from individuals of Ashkenazi Jewish background, inlarge population cohorts (Lek et al., 2016). The R11Q variant is a semi-conservative amino acidsubstitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Counsyl RCV000666333 SCV000790606 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2017-04-04 criteria provided, single submitter clinical testing
Invitae RCV001043670 SCV001207428 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-03-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 11 of the SGCD protein (p.Arg11Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs752548592, ExAC 0.003%). This variant has not been reported in the literature in individuals with SGCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 196256). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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