ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.1033C>T (p.Pro345Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002472174 SCV002769234 uncertain significance Combined oxidative phosphorylation defect type 17 2020-05-21 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_018127.6(ELAC2):c.1033C>T in exon 12 of 24 of the ELAC2 gene. This substitution is predicted to create a moderate amino acid change from a proline to a serine at position 345 of the protein, NP_060597.4(ELAC2):p.(Pro345Ser). The proline at this position has very high conservation (100 vertebrates, UCSC), but is not situated in a known functional domain. In silico software predicts this variant to be disease causing (Polyphen, SIFT, CADD, Mutation Taster). The variant is not present in the gnomAD population database. The variant has not been previously reported in a clinical testing setting. Based on information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS). Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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