Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001265938 | SCV001444110 | pathogenic | Inborn genetic diseases | 2021-10-26 | criteria provided, single submitter | clinical testing | The c.3976delA (p.I1326*) alteration, located in exon 11 (coding exon 11) of the SPEN gene, consists of a deletion of one nucleotide at position 3976, causing a translational frameshift with a predicted alternate stop codon. This changes the amino acid from a isoleucine to a stop codon at amino acid position 1326. 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. |