ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.85C>T (p.Pro29Ser)

dbSNP: rs934745570
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548859 SCV000655882 uncertain significance Combined oxidative phosphorylation defect type 27 2017-05-24 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a CARS2-related disease. This sequence change replaces proline with serine at codon 29 of the CARS2 protein (p.Pro29Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine.

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