ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.1637C>T (p.Pro546Leu)

gnomAD frequency: 0.00004  dbSNP: rs756654862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237619 SCV002011003 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003464132 SCV004206752 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2024-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003237619 SCV005690808 uncertain significance not provided 2024-03-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 575 of the RHBDF2 protein (p.Pro575Leu). This variant is present in population databases (rs756654862, gnomAD 0.006%). 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: 1319626). 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.

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