ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1303C>A (p.Pro435Thr)

gnomAD frequency: 0.00020  dbSNP: rs115186444
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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) RCV000595660 SCV000705737 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531057 SCV003300733 uncertain significance Peroxisome biogenesis disorder 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 435 of the PEX6 protein (p.Pro435Thr). This variant is present in population databases (rs115186444, gnomAD 0.09%). 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: 499985). 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. 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 RCV002532495 SCV003746594 uncertain significance Inborn genetic diseases 2022-08-30 criteria provided, single submitter clinical testing The c.1303C>A (p.P435T) alteration is located in exon 5 (coding exon 5) of the PEX6 gene. This alteration results from a C to A substitution at nucleotide position 1303, causing the proline (P) at amino acid position 435 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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