ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.724G>T (p.Val242Phe)

dbSNP: rs200166783
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553098 SCV000649779 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-01-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 242 of the SGCA protein (p.Val242Phe). 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 missense change has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy, type 2D and autosomal recessive limb-girdle muscular dystrophy, type 2C (PMID: 10842281, 12566530). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 471337). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SGCA protein function with a positive predictive value of 95%. This variant disrupts the p.Val242 amino acid residue in SGCA. Other variant(s) that disrupt this residue have been observed in individuals with SGCA-related conditions (PMID: 7663524), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000553098 SCV001140684 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000553098 SCV002809363 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000553098 SCV003931693 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000553098 SCV004203160 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-09-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000553098 SCV004238639 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000553098 SCV002087575 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-12-22 no assertion criteria provided clinical testing

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