ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.3439A>G (p.Met1147Val)

gnomAD frequency: 0.00003  dbSNP: rs550138374
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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 RCV002233671 SCV000827834 uncertain significance Distal hereditary motor neuropathy type 2 2023-02-14 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 576603). This missense change has been observed in at least one individual who was not affected with FBXO38-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with FBXO38-related conditions. This variant is present in population databases (rs550138374, gnomAD 0.03%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1072 of the FBXO38 protein (p.Met1072Val).
GeneDx RCV004723102 SCV005332919 uncertain significance not provided 2023-03-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)

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