ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.812C>T (p.Pro271Leu)

gnomAD frequency: 0.00034  dbSNP: rs142088776
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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) RCV000281616 SCV000343505 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing
Invitae RCV001206840 SCV001378169 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 291 of the PEX10 protein (p.Pro291Leu). This variant is present in population databases (rs142088776, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 289191). 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 RCV002518071 SCV003728085 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.872C>T (p.P291L) alteration is located in exon 5 (coding exon 5) of the PEX10 gene. This alteration results from a C to T substitution at nucleotide position 872, causing the proline (P) at amino acid position 291 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833389 SCV002094109 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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