ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.751C>T (p.Leu251Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003085675 SCV003462168 uncertain significance Peroxisome biogenesis disorder 2022-06-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 251 of the PEX6 protein (p.Leu251Phe). This variant is present in population databases (rs769332435, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. 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 RCV003085674 SCV003661719 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.751C>T (p.L251F) alteration is located in exon 1 (coding exon 1) of the PEX6 gene. This alteration results from a C to T substitution at nucleotide position 751, causing the leucine (L) at amino acid position 251 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004738669 SCV005348347 uncertain significance PEX6-related disorder 2024-07-17 no assertion criteria provided clinical testing The PEX6 c.751C>T variant is predicted to result in the amino acid substitution p.Leu251Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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