Submissions for variant NM_007289.4(MME):c.1933C>A (p.Leu645Met)

gnomAD frequency: 0.00001  dbSNP: rs202245924

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001057666	SCV001222170	uncertain significance	not provided	2022-07-17	criteria provided, single submitter	clinical testing	This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 645 of the MME protein (p.Leu645Met). This variant is present in population databases (rs202245924, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MME-related conditions. ClinVar contains an entry for this variant (Variation ID: 852945). 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.
CeGaT Center for Human Genetics Tuebingen	RCV001057666	SCV005051001	uncertain significance	not provided	2024-05-01	criteria provided, single submitter	clinical testing	MME: PM2, BP5