ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1922G>A (p.Gly641Asp)

dbSNP: rs1682706568
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001048789 SCV001212812 uncertain significance Multiple gastrointestinal atresias 2022-02-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 641 of the TTC7A protein (p.Gly641Asp). ClinVar contains an entry for this variant (Variation ID: 845677). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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