ClinVar Miner

Submissions for variant NM_139242.4(MTFMT):c.19C>G (p.Arg7Gly)

dbSNP: rs759489465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660613 SCV000782730 uncertain significance Combined oxidative phosphorylation defect type 15 2017-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530580 SCV003556395 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.19C>G (p.R7G) alteration is located in exon 1 (coding exon 1) of the MTFMT gene. This alteration results from a C to G substitution at nucleotide position 19, causing the arginine (R) at amino acid position 7 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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