ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2443G>T (p.Ala815Ser)

gnomAD frequency: 0.00001  dbSNP: rs779096998
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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 RCV000814839 SCV000955267 uncertain significance Multiple gastrointestinal atresias 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 815 of the TTC7A protein (p.Ala815Ser). This variant is present in population databases (rs779096998, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 658096). 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: "Tolerated"; PolyPhen-2: "Probably 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.
Revvity Omics, Revvity RCV003141833 SCV003821658 uncertain significance Gastrointestinal defects and immunodeficiency syndrome 1 2023-01-25 criteria provided, single submitter clinical testing

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