Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000695156 | SCV000823638 | pathogenic | Legius syndrome | 2018-05-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SPRED1 are known to be pathogenic (PMID: 17704776). This variant has not been reported in the literature in individuals with SPRED1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp79Argfs*5) in the SPRED1 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV003372813 | SCV004085721 | pathogenic | Inborn genetic diseases | 2023-08-04 | criteria provided, single submitter | clinical testing | The c.234dupA (p.D79Rfs*5) alteration, located in exon 3 (coding exon 3) of the SPRED1 gene, consists of a duplication of A at position 234, causing a translational frameshift with a predicted alternate stop codon after 5 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic. |