ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.404C>T (p.Ser135Phe)

gnomAD frequency: 0.00004  dbSNP: rs781364169
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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 RCV001215081 SCV001386802 uncertain significance Combined oxidative phosphorylation defect type 27 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 135 of the CARS2 protein (p.Ser135Phe). This variant is present in population databases (rs781364169, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 944639). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV004033955 SCV004917949 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.404C>T (p.S135F) alteration is located in exon 4 (coding exon 4) of the CARS2 gene. This alteration results from a C to T substitution at nucleotide position 404, causing the serine (S) at amino acid position 135 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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