ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.2000C>T (p.Thr667Ile)

dbSNP: rs961586097
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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 RCV001872741 SCV002141386 uncertain significance Combined oxidative phosphorylation defect type 17 2022-02-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 667 of the ELAC2 protein (p.Thr667Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ELAC2-related conditions. 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 disruptive. 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 RCV003303258 SCV003989670 uncertain significance Inborn genetic diseases 2023-05-31 criteria provided, single submitter clinical testing The c.2000C>T (p.T667I) alteration is located in exon 21 (coding exon 21) of the ELAC2 gene. This alteration results from a C to T substitution at nucleotide position 2000, causing the threonine (T) at amino acid position 667 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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