ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.494G>A (p.Arg165Gln)

gnomAD frequency: 0.00020  dbSNP: rs727503423
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Total submissions: 10
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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, Mass General Brigham 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.
Eurofins Ntd Llc (ga) 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 2021-08-03 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000700991 SCV000829771 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 165 of the SGCD protein (p.Arg165Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SGCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 165234). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SGCD protein function. 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.
GeneDx RCV000172105 SCV001811391 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing Reported as a maternally inherited variant in siblings with gastroschisis (PMID: 32163230); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23861362, 32163230)
Genome-Nilou Lab RCV000700991 SCV003931859 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233117 SCV003931860 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing

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