ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.773G>A (p.Arg258His)

gnomAD frequency: 0.00004  dbSNP: rs773147980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000268088 SCV000344607 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Invitae RCV002522017 SCV003253791 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 278 of the PEX10 protein (p.Arg278His). This variant is present in population databases (rs773147980, gnomAD 0.01%). 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: 290110). 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 histidine 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.
Ambry Genetics RCV002519335 SCV003558766 uncertain significance Inborn genetic diseases 2021-04-01 criteria provided, single submitter clinical testing The c.833G>A (p.R278H) alteration is located in exon 4 (coding exon 4) of the PEX10 gene. This alteration results from a G to A substitution at nucleotide position 833, causing the arginine (R) at amino acid position 278 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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