ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.527T>C (p.Ile176Thr)

gnomAD frequency: 0.00001  dbSNP: rs767243208
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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 RCV001343816 SCV001537825 uncertain significance Combined oxidative phosphorylation defect type 27 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 176 of the CARS2 protein (p.Ile176Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CARS2-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 RCV004036404 SCV004919390 uncertain significance Inborn genetic diseases 2023-12-14 criteria provided, single submitter clinical testing The c.527T>C (p.I176T) alteration is located in exon 5 (coding exon 5) of the CARS2 gene. This alteration results from a T to C substitution at nucleotide position 527, causing the isoleucine (I) at amino acid position 176 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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