ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser)

gnomAD frequency: 0.00005  dbSNP: rs200495464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056114 SCV001220535 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 214 of the TOR1AIP1 protein (p.Asn214Ser). This variant is present in population databases (rs200495464, gnomAD 0.008%). 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: 851674). 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. 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.
GeneDx RCV001564898 SCV001788138 uncertain significance not provided 2019-11-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Revvity Omics, Revvity RCV001056114 SCV003827821 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2019-03-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001056114 SCV004178550 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2023-04-11 criteria provided, single submitter clinical testing

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