ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1138T>C (p.Tyr380His)

dbSNP: rs1888244220
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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 RCV001308140 SCV001497578 uncertain significance Combined oxidative phosphorylation defect type 27 2022-08-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1010501). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 380 of the CARS2 protein (p.Tyr380His). 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 RCV002543225 SCV003568674 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.1138T>C (p.Y380H) alteration is located in exon 11 (coding exon 11) of the CARS2 gene. This alteration results from a T to C substitution at nucleotide position 1138, causing the tyrosine (Y) at amino acid position 380 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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