ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2672A>G (p.Lys891Arg)

gnomAD frequency: 0.00002  dbSNP: rs886044685
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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) RCV000306896 SCV000345910 uncertain significance not provided 2016-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518167 SCV003030143 uncertain significance Peroxisome biogenesis disorder 2023-10-13 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 891 of the PEX6 protein (p.Lys891Arg). This variant is present in population databases (no rsID available, 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: 291199). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX6 protein function. 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 RCV002519353 SCV003566915 uncertain significance Inborn genetic diseases 2021-07-21 criteria provided, single submitter clinical testing The c.2672A>G (p.K891R) alteration is located in exon 16 (coding exon 16) of the PEX6 gene. This alteration results from a A to G substitution at nucleotide position 2672, causing the lysine (K) at amino acid position 891 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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