ClinVar Miner

Submissions for variant NM_007289.4(MME):c.674G>C (p.Gly225Ala)

gnomAD frequency: 0.00163  dbSNP: rs147564881
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891593 SCV001035415 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000891593 SCV001803953 likely benign not provided 2023-01-07 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000891593 SCV005074099 benign not provided 2025-02-01 criteria provided, single submitter clinical testing MME: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000891593 SCV005260928 likely benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056660 SCV005725813 likely benign not specified 2024-11-29 criteria provided, single submitter clinical testing Variant summary: MME c.674G>C (p.Gly225Ala) results in a non-conservative amino acid change located in the Neprilysin-like (M13) protease domain profile (IPR000718) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0016 in 244650 control chromosomes, predominantly at a frequency of 0.0027 within the Latino subpopulation in the gnomAD database. The observed variant frequency within Latino control individuals in the gnomAD database is approximately 2.41 fold of the estimated maximal expected allele frequency for a pathogenic variant in MME causing Charcot-Marie-Tooth disease, axonal, type 2T-AR phenotype (0.0011). To our knowledge, no occurrence of c.674G>C in individuals affected with Charcot-Marie-Tooth disease, axonal, type 2T-AR and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 718611). Based on the evidence outlined above, the variant was classified as likely benign.

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