ClinVar Miner

Submissions for variant NM_007289.4(MME):c.269G>T (p.Gly90Val)

dbSNP: rs375446154
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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 RCV001993556 SCV002255859 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 90 of the MME protein (p.Gly90Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs375446154, ExAC 0.01%). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV003264343 SCV003954295 uncertain significance Inborn genetic diseases 2023-03-20 criteria provided, single submitter clinical testing The c.269G>T (p.G90V) alteration is located in exon 4 (coding exon 3) of the MME gene. This alteration results from a G to T substitution at nucleotide position 269, causing the glycine (G) at amino acid position 90 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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