ClinVar Miner

Submissions for variant NM_001319074.4(RAX2):c.92G>A (p.Arg31His)

gnomAD frequency: 0.00004  dbSNP: rs373009969
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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 RCV001225699 SCV001397985 uncertain significance not provided 2024-10-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 31 of the RAX2 protein (p.Arg31His). This variant is present in population databases (rs373009969, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with RAX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 635426). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Probably Damaging". The histidine 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786875 SCV000925772 uncertain significance Cone-rod dystrophy 11 2018-09-24 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817994 SCV005070865 uncertain significance Retinal dystrophy 2021-01-01 no assertion criteria provided clinical testing

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