ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.467G>A (p.Ser156Asn)

gnomAD frequency: 0.00004  dbSNP: rs1554331549
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001369755 SCV001566203 uncertain significance Peroxisome biogenesis disorder 9B 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 156 of the PEX7 protein (p.Ser156Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (no rsID available, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with PEX7-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Preventiongenetics, part of Exact Sciences RCV003416285 SCV004106874 uncertain significance PEX7-related condition 2023-08-30 criteria provided, single submitter clinical testing The PEX7 c.467G>A variant is predicted to result in the amino acid substitution p.Ser156Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-137167260-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001831293 SCV002077245 uncertain significance Rhizomelic chondrodysplasia punctata 2020-10-15 no assertion criteria provided clinical testing

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