ClinVar Miner

Submissions for variant NM_004813.4(PEX16):c.922G>C (p.Asp308His)

dbSNP: rs749785179
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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) RCV000729593 SCV000857267 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002533108 SCV003284016 uncertain significance Peroxisome biogenesis disorder 2022-04-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 308 of the PEX16 protein (p.Asp308His). This variant is present in population databases (rs749785179, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PEX16-related conditions. ClinVar contains an entry for this variant (Variation ID: 594331). 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: "Deleterious"; 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 RCV002535124 SCV003704008 uncertain significance Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing The c.922G>C (p.D308H) alteration is located in exon 10 (coding exon 10) of the PEX16 gene. This alteration results from a G to C substitution at nucleotide position 922, causing the aspartic acid (D) at amino acid position 308 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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