ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.506G>A (p.Arg169His)

gnomAD frequency: 0.00002  dbSNP: rs771708027
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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 RCV002240171 SCV001208911 uncertain significance Distal hereditary motor neuropathy type 2 2022-07-10 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 169 of the FBXO38 protein (p.Arg169His). This variant is present in population databases (rs771708027, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FBXO38-related conditions. ClinVar contains an entry for this variant (Variation ID: 842631). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004031382 SCV002645939 uncertain significance not specified 2021-02-11 criteria provided, single submitter clinical testing The p.R169H variant (also known as c.506G>A), located in coding exon 4 of the FBXO38 gene, results from a G to A substitution at nucleotide position 506. The arginine at codon 169 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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