ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.37+5G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV003226137 SCV003922327 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-05-02 criteria provided, single submitter curation The homozygous c.37+5G>T variant in SGCA was identified by our study in one individual with proximal muscle weakness. The c.37+5G>T variant in SGCA has not been previously reported in individuals with autosomal recessive limb-girdle muscular dystrophy 3. This variant was absent from large population studies. This variant is located in the 5' splice region. Computational tools predict a splicing impact, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the c.37+5G>T variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PM3_Supporting, PP3 (Richards 2015).

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