ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.220G>A (p.Val74Ile)

gnomAD frequency: 0.00009  dbSNP: rs768438726
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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) RCV000735188 SCV000863391 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Invitae RCV001243375 SCV001416529 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-10-14 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 74 of the PEX10 protein (p.Val74Ile). This variant is present in population databases (rs768438726, gnomAD 0.02%). 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: 598728). 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: "Probably 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.
Ambry Genetics RCV003243289 SCV003944204 uncertain significance Inborn genetic diseases 2023-04-19 criteria provided, single submitter clinical testing The c.220G>A (p.V74I) alteration is located in exon 3 (coding exon 3) of the PEX10 gene. This alteration results from a G to A substitution at nucleotide position 220, causing the valine (V) at amino acid position 74 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825488 SCV002094146 uncertain significance Zellweger spectrum disorders 2020-05-27 no assertion criteria provided clinical testing

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