ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.367G>A (p.Gly123Ser)

gnomAD frequency: 0.00003  dbSNP: rs777471290
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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 RCV001938102 SCV002186106 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 152 of the RHBDF2 protein (p.Gly152Ser). This variant is present in population databases (rs777471290, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RHBDF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1408619). 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.
Baylor Genetics RCV004571591 SCV005054250 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2024-03-04 criteria provided, single submitter clinical testing

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