ClinVar Miner

Submissions for variant NM_016034.5(MRPS2):c.862C>A (p.Pro288Thr)

dbSNP: rs1831230615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330900 SCV001522746 uncertain significance Combined oxidative phosphorylation deficiency 36 2019-03-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035706 SCV003584449 uncertain significance not specified 2021-09-17 criteria provided, single submitter clinical testing The c.862C>A (p.P288T) alteration is located in exon 4 (coding exon 4) of the MRPS2 gene. This alteration results from a C to A substitution at nucleotide position 862, causing the proline (P) at amino acid position 288 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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