ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.506C>T (p.Ala169Val)

gnomAD frequency: 0.00001  dbSNP: rs876658001
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214577 SCV000272431 uncertain significance not specified 2015-06-24 criteria provided, single submitter clinical testing The p.Ala169Val variant in SGCD has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Ala169Val var iant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519654 SCV003258992 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-03-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 169 of the SGCD protein (p.Ala169Val). 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: 229249). 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. 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.
Genome-Nilou Lab RCV002519654 SCV003931861 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233500 SCV003931862 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing

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