ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.155A>G (p.Lys52Arg)

gnomAD frequency: 0.00001  dbSNP: rs765724768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001913508 SCV002181614 uncertain significance not provided 2021-06-15 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RHBDF2-related conditions. This variant is present in population databases (rs765724768, ExAC 0.002%). This sequence change replaces lysine with arginine at codon 81 of the RHBDF2 protein (p.Lys81Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine.
Baylor Genetics RCV003471037 SCV004209073 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome 2023-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042831 SCV004939894 likely benign Inborn genetic diseases 2024-01-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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