ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.151C>G (p.Arg51Gly)

dbSNP: rs764131110
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002892532 SCV003650996 uncertain significance Inborn genetic diseases 2022-09-26 criteria provided, single submitter clinical testing The c.151C>G (p.R51G) alteration is located in exon 2 (coding exon 1) of the MTHFR gene. This alteration results from a C to G substitution at nucleotide position 151, causing the arginine (R) at amino acid position 51 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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