ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1207C>G (p.Pro403Ala)

dbSNP: rs781794820
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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 RCV004820036 SCV005441751 likely benign Rett syndrome 2024-08-30 reviewed by expert panel curation The p.Pro391Ala variant in MECP2 (NM_004992.4) is observed in at least 2 unaffected individuals (internal database - Invitae and GeneDx) (BS2). The p.Pro391Ala variant is not currently published and is not present in additional databases (internal and publicly available), therefore, no additional criteria are applicable at this time. In the absence of conflicting evidence, this is sufficient evidence to classify as likely benign based on the specifications defined by the ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel. In summary, the p.Pro391Ala variant in MECP2 (NM_004992.4) is classified as likely benign for Rett syndrome based on the ACMG/AMP criteria (BS2). (MECP2 specification v.3.0.0, curation approved on 8/30/2024)
GeneDx RCV000490157 SCV000577520 likely benign not specified 2018-01-29 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.
Ambry Genetics RCV003372730 SCV004093920 uncertain significance Inborn genetic diseases 2023-09-14 criteria provided, single submitter clinical testing The c.1171C>G (p.P391A) alteration is located in exon 4 (coding exon 3) of the MECP2 gene. This alteration results from a C to G substitution at nucleotide position 1171, causing the proline (P) at amino acid position 391 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003638672 SCV004469381 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-11-20 criteria provided, single submitter clinical testing

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