ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.3976del (p.Lys1325_Ile1326insTer)

dbSNP: rs2071207771
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Total submissions: 1
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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.

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