ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.229C>T (p.Arg77Cys)

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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 RCV002637573 SCV003517667 uncertain significance Treacher Collins syndrome 1 2021-12-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 77 of the TCOF1 protein (p.Arg77Cys). This variant has not been reported in the literature in individuals affected with TCOF1-related conditions. 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 disruptive.
Ambry Genetics RCV004070785 SCV004963644 uncertain significance Inborn genetic diseases 2023-12-05 criteria provided, single submitter clinical testing The c.229C>T (p.R77C) alteration is located in exon 3 (coding exon 3) of the TCOF1 gene. This alteration results from a C to T substitution at nucleotide position 229, causing the arginine (R) at amino acid position 77 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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