ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.3020+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1555179091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001854130 SCV002180657 pathogenic Spastic paraplegia 2022-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 27 and introduces a new termination codon (PMID: 29566793). However the mRNA is not expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 504478). This variant has been observed in individuals with amyotrophic lateral sclerosis (PMID: 29342275, 29566793, 32815063). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 27 of the KIF5A gene. It does not directly change the encoded amino acid sequence of the KIF5A protein. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein.
OMIM RCV000599583 SCV000710802 risk factor Amyotrophic lateral sclerosis, susceptibility to, 25 2018-03-29 no assertion criteria provided literature only

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