ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1823dup (p.Asn608fs)

dbSNP: rs2465946676
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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 RCV004460083 SCV004957376 likely pathogenic Inborn genetic diseases 2024-02-01 criteria provided, single submitter clinical testing The c.1823dupA (p.N608Kfs*23) alteration, located in exon 17 (coding exon 17) of the SPAST gene, consists of a duplication of A at position 1823, causing a translational frameshift with a predicted alternate stop codon after 23 amino acids. This alteration occurs at the 3' terminus of the SPAST gene, is not expected to trigger nonsense-mediated mRNA decay and results in the elongation of the protein by 13 amino acids. This frameshift impacts the last 9 amino acids (1.5%) of the native protein. Frameshifts are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). 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 likely pathogenic.

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