ClinVar Miner

Submissions for variant NM_016065.4(MRPS16):c.238G>A (p.Gly80Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003106423 SCV003781793 uncertain significance not provided 2022-10-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MRPS16-related conditions. 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. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant is present in population databases (rs142389124, gnomAD 0.06%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 80 of the MRPS16 protein (p.Gly80Arg).
Baylor Genetics RCV003147841 SCV003835295 uncertain significance Combined oxidative phosphorylation defect type 2 2022-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004244517 SCV005000216 uncertain significance not specified 2023-11-22 criteria provided, single submitter clinical testing The c.238G>A (p.G80R) alteration is located in exon 2 (coding exon 2) of the MRPS16 gene. This alteration results from a G to A substitution at nucleotide position 238, causing the glycine (G) at amino acid position 80 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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