ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly)

gnomAD frequency: 0.00008  dbSNP: rs201023108
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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 RCV001044272 SCV001208062 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 125 of the TOR1AIP1 protein (p.Arg125Gly). This variant is present in population databases (rs201023108, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TOR1AIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 841950). 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 TOR1AIP1 protein function with a negative predictive value of 80%. 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 RCV001044272 SCV003827826 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2019-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346273 SCV004068014 uncertain significance Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing The c.373C>G (p.R125G) alteration is located in exon 1 (coding exon 1) of the TOR1AIP1 gene. This alteration results from a C to G substitution at nucleotide position 373, causing the arginine (R) at amino acid position 125 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001044272 SCV004178537 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2023-04-11 criteria provided, single submitter clinical testing
GeneDx RCV004812376 SCV005437836 uncertain significance not provided 2024-06-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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