ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.592A>G (p.Ile198Val)

gnomAD frequency: 0.00001  dbSNP: rs375463037
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244371 SCV001417587 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 198 of the SGCA protein (p.Ile198Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 969103). 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 not expected to disrupt SGCA protein function. 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.
Athena Diagnostics RCV001664777 SCV001879653 uncertain significance not provided 2021-04-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001244371 SCV003931685 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004960639 SCV005497432 uncertain significance Inborn genetic diseases 2024-10-17 criteria provided, single submitter clinical testing The c.592A>G (p.I198V) alteration is located in exon 6 (coding exon 6) of the SGCA gene. This alteration results from a A to G substitution at nucleotide position 592, causing the isoleucine (I) at amino acid position 198 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001244371 SCV002087572 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-04-15 no assertion criteria provided clinical testing

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