ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu)

gnomAD frequency: 0.00008  dbSNP: rs267608491
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002055854 SCV002441376 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336286 SCV002645281 uncertain significance Inborn genetic diseases 2017-09-20 criteria provided, single submitter clinical testing The p.P172L variant (also known as c.515C>T), located in coding exon 3 of the MECP2 gene, results from a C to T substitution at nucleotide position 515. The proline at codon 172 is replaced by leucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003398778 SCV004118855 uncertain significance MECP2-related condition 2023-01-30 criteria provided, single submitter clinical testing The MECP2 c.515C>T variant is predicted to result in the amino acid substitution p.Pro172Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0076% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including 2 hemizygotes (http://gnomad.broadinstitute.org/variant/X-153296764-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
RettBASE RCV000133147 SCV000188139 benign not specified 2010-07-13 no assertion criteria provided curation

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