ClinVar Miner

Submissions for variant NM_018116.4(MSTO1):c.1600C>T (p.Arg534Cys)

gnomAD frequency: 0.00003  dbSNP: rs779998857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV002245300 SCV002515360 uncertain significance Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 2022-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045184 SCV005005635 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.1600C>T (p.R534C) alteration is located in exon 14 (coding exon 14) of the MSTO1 gene. This alteration results from a C to T substitution at nucleotide position 1600, causing the arginine (R) at amino acid position 534 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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