ClinVar Miner

Submissions for variant NM_139242.4(MTFMT):c.34C>A (p.Pro12Thr)

gnomAD frequency: 0.00021  dbSNP: rs933296601
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332912 SCV001525355 uncertain significance Combined oxidative phosphorylation defect type 15 2019-05-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001859303 SCV002201852 uncertain significance not provided 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 12 of the MTFMT protein (p.Pro12Thr). This variant is present in population databases (no rsID available, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with MTFMT-related conditions. ClinVar contains an entry for this variant (Variation ID: 1031157). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001859303 SCV003805401 uncertain significance not provided 2023-02-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004035753 SCV005006474 uncertain significance Inborn genetic diseases 2021-10-14 criteria provided, single submitter clinical testing The c.34C>A (p.P12T) alteration is located in exon 1 (coding exon 1) of the MTFMT gene. This alteration results from a C to A substitution at nucleotide position 34, causing the proline (P) at amino acid position 12 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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