ClinVar Miner

Submissions for variant NM_007289.4(MME):c.1907G>A (p.Gly636Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002741890 SCV003023221 uncertain significance not provided 2022-05-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MME-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 636 of the MME protein (p.Gly636Glu).
Ambry Genetics RCV004958744 SCV005443606 uncertain significance Inborn genetic diseases 2024-08-20 criteria provided, single submitter clinical testing The c.1907G>A (p.G636E) alteration is located in exon 19 (coding exon 18) of the MME gene. This alteration results from a G to A substitution at nucleotide position 1907, causing the glycine (G) at amino acid position 636 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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