ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.37G>A (p.Glu13Lys)

gnomAD frequency: 0.00006  dbSNP: rs749592068
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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 RCV000560627 SCV000656813 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 13 of the TOR1AIP1 protein (p.Glu13Lys). This variant is present in population databases (rs749592068, gnomAD 0.09%). 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: 476284). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV001541470 SCV001759472 uncertain significance not provided 2024-10-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Genome-Nilou Lab RCV000560627 SCV004178525 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678751 SCV005177863 uncertain significance Inborn genetic diseases 2024-04-01 criteria provided, single submitter clinical testing The c.37G>A (p.E13K) 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 37, causing the glutamic acid (E) at amino acid position 13 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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