ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3062G>A (p.Ser1021Asn)

dbSNP: rs1330798276
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729854 SCV000857546 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002233737 SCV000948502 uncertain significance Zellweger spectrum disorders 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 1021 of the PEX1 protein (p.Ser1021Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly 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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