ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.391del (p.Leu131fs)

dbSNP: rs144356125
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481165 SCV000566472 pathogenic not provided 2015-05-07 criteria provided, single submitter clinical testing The c.391delC deletion in the SGCA gene causes a frameshift starting with codon Leucine 131, changes thisamino acid to a Cysteine residue and creates a premature Stop codon at position 80 of the new reading frame,denoted p.Leu131CysfsX80. This variant is predicted to cause loss of normal protein function either throughprotein truncation or nonsense-mediated mRNA decay. Therefore, we interpret the c.391delC as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000536997 SCV000649769 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-08-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 418990). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu131Cysfs*80) in the SGCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266).
Genome-Nilou Lab RCV000536997 SCV003931665 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing

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