ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.1291T>G (p.Phe431Val)

gnomAD frequency: 0.00003  dbSNP: rs772174532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001726790 SCV001961179 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539757 SCV003647193 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.1291T>G (p.F431V) alteration is located in exon 14 (coding exon 14) of the MTR gene. This alteration results from a T to G substitution at nucleotide position 1291, causing the phenylalanine (F) at amino acid position 431 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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