ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.397G>A (p.Val133Met)

gnomAD frequency: 0.00001  dbSNP: rs749546800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045614 SCV001209478 uncertain significance Multiple gastrointestinal atresias 2022-03-29 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 843077). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (rs749546800, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 133 of the TTC7A protein (p.Val133Met).
Ambry Genetics RCV002552584 SCV003615112 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.397G>A (p.V133M) alteration is located in exon 3 (coding exon 3) of the TTC7A gene. This alteration results from a G to A substitution at nucleotide position 397, causing the valine (V) at amino acid position 133 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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