ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.494G>A (p.Arg165Gln) (rs727503423)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172105 SCV000055143 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151873 SCV000200357 uncertain significance not specified 2013-10-18 criteria provided, single submitter clinical testing The Arg165Gln variant in SGCD has not been previously reported in individuals wi th cardiomyopathy or in large European American or African American cohorts. Com putational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical signi ficance of the Arg165Gln variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172105 SCV000342535 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515330 SCV000611434 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2017-05-23 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000151873 SCV000740669 uncertain significance not specified 2016-05-31 criteria provided, single submitter clinical testing
Counsyl RCV000515330 SCV000789697 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2017-02-15 criteria provided, single submitter clinical testing
Invitae RCV000700991 SCV000829771 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 165 of the SGCD protein (p.Arg165Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs727503423, ExAC 0.06%). This variant has not been reported in the literature in individuals with SGCD-related disease. ClinVar contains an entry for this variant (Variation ID: 165234). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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