ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1240A>G (p.Ile414Val)

gnomAD frequency: 0.00002  dbSNP: rs759491353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732717 SCV000860698 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing
Invitae RCV001247848 SCV001421299 uncertain significance Zellweger spectrum disorders 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 414 of the PEX1 protein (p.Ile414Val). This variant is present in population databases (rs759491353, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 596776). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV003243283 SCV003937381 uncertain significance Inborn genetic diseases 2023-04-13 criteria provided, single submitter clinical testing The c.1240A>G (p.I414V) alteration is located in exon 6 (coding exon 6) of the PEX1 gene. This alteration results from a A to G substitution at nucleotide position 1240, causing the isoleucine (I) at amino acid position 414 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001247848 SCV002076915 uncertain significance Zellweger spectrum disorders 2017-10-17 no assertion criteria provided clinical testing

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