ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.1030G>A (p.Val344Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463514 SCV004206751 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2023-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779098 SCV004636987 uncertain significance not provided 2023-10-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 373 of the RHBDF2 protein (p.Val373Met). This variant is present in population databases (rs779944124, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with RHBDF2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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