ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.715T>C (p.Phe239Leu)

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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 RCV004638489 SCV005141031 uncertain significance Inborn genetic diseases 2024-04-15 criteria provided, single submitter clinical testing The c.715T>C (p.F239L) alteration is located in exon 5 (coding exon 4) of the MTHFR gene. This alteration results from a T to C substitution at nucleotide position 715, causing the phenylalanine (F) at amino acid position 239 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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