ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.37+6T>C

dbSNP: rs751466815
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000369531 SCV000331524 uncertain significance not provided 2016-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000558391 SCV000649768 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-08-15 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the SGCA gene. It does not directly change the encoded amino acid sequence of the SGCA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs751466815, gnomAD 0.003%). This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 281148). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Revvity Omics, Revvity RCV000558391 SCV003827562 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000558391 SCV003931624 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000558391 SCV004047074 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D criteria provided, single submitter clinical testing The c.37+6T>C splice region variant has been in individual(s) with clinical features of limb-girdle muscular dystrophy. This variant is reported with the allele frequency (0.0004%) in the gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).
Natera, Inc. RCV000558391 SCV001453374 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003897599 SCV004716399 uncertain significance SGCA-related disorder 2024-01-05 no assertion criteria provided clinical testing The SGCA c.37+6T>C variant is predicted to interfere with splicing. This variant was reported in the homozygous state in two individuals with sarcoglycanopathy (Bardhan et al 2022. PubMed ID: 35416532). At PreventionGenetics, we have observed this variant with a second SGCA variant in a patient tested for metabolic myopathy (internal data). This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-48243444-T-C). Although we suspect this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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