ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp) (rs748535121)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596492 SCV000707140 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing
Invitae RCV001051856 SCV001216036 uncertain significance Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-12-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 693 of the PEX6 protein (p.Ala693Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs748535121, ExAC 0.2%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 500963). 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.

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