ClinVar Miner

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

dbSNP: rs781794820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Invitae RCV003638672 SCV004469381 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-11-20 criteria provided, single submitter clinical testing

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