Total submissions: 4
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. |
Prevention |
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. |
Rett |
RCV000133147 | SCV000188139 | benign | not specified | 2010-07-13 | no assertion criteria provided | curation |