ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.972C>T (p.Val324=)

dbSNP: rs398124188
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV002260609 SCV002540674 likely benign Rett syndrome 2022-05-24 reviewed by expert panel curation Computational analysis prediction tools suggest that the p.Val312= variant in MECP2 (NM_004992) does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). The silent p.Val312= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). The p.Val312= variant is observed in at least 1 unaffected individual (GeneDx-internal database) (BS2_Supporting). The p.Val312= variant in MECP2 is absent from gnomAD (PM2_Supporting). In summary, the p.Val312= variant meets the criteria to be classified as Likely Benign. Although there are both pathogenic and benign types of evidence for this variant, the pathogenic evidence is not considered inconsistent with the final classification. ACMG/AMP criteria applied, as specified by the ClinGen Rett/Angelman-like expert panel: (BP4, BP7, BS2_Supporting, PM2_Supporting).
Eurofins Ntd Llc (ga) RCV000723612 SCV000113127 uncertain significance not provided 2013-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000081219 SCV000723152 likely benign not specified 2017-10-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003638616 SCV004534661 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-05-01 criteria provided, single submitter clinical testing

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