ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.108A>G (p.Lys36=)

gnomAD frequency: 0.00002  dbSNP: rs782202329
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780399 SCV000917621 benign not specified 2018-08-02 criteria provided, single submitter clinical testing Variant summary: MECP2 c.72A>G alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 7.6e-05 in 197140 control chromosomes (gnomAD). The observed variant frequency is approximately 9-fold of the estimated maximal expected allele frequency for a pathogenic variant in MECP2 causing Rett Syndrome phenotype (8.3e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.72A>G in individuals affected with Rett Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV001510469 SCV001717511 benign Severe neonatal-onset encephalopathy with microcephaly 2023-10-05 criteria provided, single submitter clinical testing
GeneDx RCV001619839 SCV001846356 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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