ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1148A>G (p.Tyr383Cys)

gnomAD frequency: 0.00004  dbSNP: rs541556135
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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 RCV002003003 SCV002275423 uncertain significance Multiple gastrointestinal atresias 2021-10-24 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 383 of the TTC7A protein (p.Tyr383Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs541556135, ExAC 0.01%). This variant has not been reported in the literature in individuals affected 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: "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.
Ambry Genetics RCV002592524 SCV003538254 uncertain significance Inborn genetic diseases 2021-10-27 criteria provided, single submitter clinical testing The c.1148A>G (p.Y383C) alteration is located in exon 9 (coding exon 9) of the TTC7A gene. This alteration results from a A to G substitution at nucleotide position 1148, causing the tyrosine (Y) at amino acid position 383 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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