ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.988C>T (p.His330Tyr)

dbSNP: rs1561827871
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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) RCV000733753 SCV000861850 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
Invitae RCV002535350 SCV003313422 uncertain significance Peroxisome biogenesis disorder 2022-03-14 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 330 of the PEX6 protein (p.His330Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 597586). 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 tyrosine 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.

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