ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)

dbSNP: rs587783138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144811 SCV000191043 likely benign not specified 2016-05-04 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 RCV002055866 SCV002435164 benign Severe neonatal-onset encephalopathy with microcephaly 2023-11-20 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227673 SCV003924123 likely benign Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 2021-03-30 criteria provided, single submitter clinical testing MECP2 NM_004992.3 exon 4 p.Ala202Val (c.605C>T): This variant has not been reported in the literature but is present in 0.02% (5/19080) of South Asian alleles including 3 hemizygotes in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/X-153296674-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:156668). This variant amino acid Valine (Val) is present in multiple species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003895016 SCV004709315 likely benign MECP2-related condition 2020-09-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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