Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004018671 | SCV004956405 | pathogenic | Inborn genetic diseases | 2023-12-21 | criteria provided, single submitter | clinical testing | The c.7549delC (p.Q2517Kfs*5) alteration, located in exon 34 (coding exon 32) of the SRCAP gene, consists of a deletion of one nucleotide at position 7549, causing a translational frameshift with a predicted alternate stop codon after 5 amino acids. This alteration occurs at the 3' terminus of the SRCAP gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 22% of the protein. Premature stop codons are typically deleterious in nature, the impacted region is critical for protein function, and a significant portion of the protein is affected (Ambry internal data)._x000D_ _x000D_ for Floating-Harbor syndrome; however, its clinical significance for SRCAP-related neurodevelopmental disorder is uncertain. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been determined to be the result of a de novo mutation in one individual with features consistent with Floating-Harbor syndrome (Hood, 2012). Based on the available evidence, this alteration is classified as pathogenic. |
| OMIM | RCV000023897 | SCV000045188 | pathogenic | Floating-Harbor syndrome | 2012-02-10 | no assertion criteria provided | literature only |