ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.731C>T (p.Pro244Leu) (rs375159661)

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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, Partners HealthCare Personalized Medicine RCV000036264 SCV000059916 uncertain significance not specified 2012-05-25 criteria provided, single submitter clinical testing The Pro244Leu variant in SGCD has been identified in 2/6712 European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS). Computational analyses (biochemical amino acid prope rties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Pro244Leu variant may not impact the protein, though this information is not predictive en ough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of this variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726160 SCV000342514 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing
Counsyl RCV000671185 SCV000796136 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2017-12-07 criteria provided, single submitter clinical testing
Invitae RCV001060433 SCV001225120 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-12-02 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 244 of the SGCD protein (p.Pro244Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs375159661, ExAC 0.009%). This variant has been observed in individual(s) with dilated cardiomyopathy (PMID: 24503780). ClinVar contains an entry for this variant (Variation ID: 43356). 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. 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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