ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.12G>T (p.Lys4Asn)

dbSNP: rs1274237789
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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 RCV001340294 SCV001534095 uncertain significance Multiple gastrointestinal atresias 2020-07-29 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 4 of the TTC7A protein (p.Lys4Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with TTC7A-related conditions. 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: "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.

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