ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.241G>A (p.Val81Met)

gnomAD frequency: 0.00005  dbSNP: rs376847458
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753965 SCV001986893 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861046 SCV002108429 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2022-02-14 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 81 of the TOR1AIP1 protein (p.Val81Met). This variant is present in population databases (rs376847458, gnomAD 0.003%). 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: 1302076). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV003163817 SCV003902115 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.241G>A (p.V81M) alteration is located in exon 1 (coding exon 1) of the TOR1AIP1 gene. This alteration results from a G to A substitution at nucleotide position 241, causing the valine (V) at amino acid position 81 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001861046 SCV004178530 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2023-04-11 criteria provided, single submitter clinical testing

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