ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1610A>G (p.Tyr537Cys)

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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 RCV003114980 SCV003785823 uncertain significance Multiple gastrointestinal atresias 2022-04-18 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 537 of the TTC7A protein (p.Tyr537Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TTC7A-related conditions.
Ambry Genetics RCV004676171 SCV005173858 uncertain significance Inborn genetic diseases 2024-04-18 criteria provided, single submitter clinical testing The c.1610A>G (p.Y537C) alteration is located in exon 14 (coding exon 14) of the TTC7A gene. This alteration results from a A to G substitution at nucleotide position 1610, causing the tyrosine (Y) at amino acid position 537 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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