ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)

gnomAD frequency: 0.00031  dbSNP: rs371714495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001278255 SCV003522484 likely benign Methylmalonic aciduria, cblA type 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541678 SCV003617812 uncertain significance Inborn genetic diseases 2022-05-09 criteria provided, single submitter clinical testing The c.393A>T (p.R131S) alteration is located in exon 2 (coding exon 1) of the MMAA gene. This alteration results from a A to T substitution at nucleotide position 393, causing the arginine (R) at amino acid position 131 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001278255 SCV001465253 uncertain significance Methylmalonic aciduria, cblA type 2020-10-19 no assertion criteria provided clinical testing

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