ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.1871T>C (p.Leu624Ser)

gnomAD frequency: 0.00006  dbSNP: rs1217149676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816662 SCV000957179 uncertain significance Combined oxidative phosphorylation defect type 17 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 624 of the ELAC2 protein (p.Leu624Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ELAC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 659632). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002487800 SCV002790570 uncertain significance Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 2021-07-01 criteria provided, single submitter clinical testing

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