ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.719C>G (p.Ala240Gly)

gnomAD frequency: 0.00001  dbSNP: rs372269200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000316043 SCV000342049 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764649 SCV000895770 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855197 SCV002210087 uncertain significance Peroxisome biogenesis disorder 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 240 of the PEX6 protein (p.Ala240Gly). This variant is present in population databases (rs372269200, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 288056). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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