ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.1345C>T (p.Arg449Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003471858 SCV004209090 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2024-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779099 SCV004671866 uncertain significance not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 478 of the RHBDF2 protein (p.Arg478Trp). This variant is present in population databases (rs776442321, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with RHBDF2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004364795 SCV004939888 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.1432C>T (p.R478W) alteration is located in exon 12 (coding exon 10) of the RHBDF2 gene. This alteration results from a C to T substitution at nucleotide position 1432, causing the arginine (R) at amino acid position 478 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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