ClinVar Miner

Submissions for variant NM_139242.4(MTFMT):c.1129A>C (p.Lys377Gln)

dbSNP: rs34507711
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266247 SCV001444419 uncertain significance Inborn genetic diseases 2019-05-22 criteria provided, single submitter clinical testing
GeneDx RCV001713076 SCV001940747 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001713076 SCV002288134 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 377 of the MTFMT protein (p.Lys377Gln). This variant is present in population databases (rs34507711, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. 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: 985377). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
CeGaT Center for Human Genetics Tuebingen RCV001713076 SCV002497795 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing MTFMT: BP4

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