ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.413A>G (p.Lys138Arg)

gnomAD frequency: 0.00002  dbSNP: rs762113236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001325468 SCV001516461 uncertain significance Peroxisome biogenesis disorder 9B 2022-02-14 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 138 of the PEX7 protein (p.Lys138Arg). This variant is present in population databases (rs762113236, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PEX7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1025183). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001831004 SCV002077243 uncertain significance Rhizomelic chondrodysplasia punctata 2021-02-18 no assertion criteria provided clinical testing

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