ClinVar Miner

Submissions for variant NM_018116.4(MSTO1):c.725G>A (p.Gly242Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002508752 SCV002817429 uncertain significance Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 2022-12-08 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 8 of the MSTO1 gene that results in the amino acid substitution of Aspartic acid for Glycine at codon 242 was detected. The observed variant c.725G>A (p.Gly242Asp) has not been reported in the 1000 genomes, gnomAD and our internal databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv), damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant is of uncertain significance.

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