ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)

dbSNP: rs1341613149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007445 SCV002234484 pathogenic not provided 2022-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ELP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp775Leufs*2) in the ELP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ELP1 are known to be pathogenic (PMID: 18303054, 24173031).
Ambry Genetics RCV004044348 SCV002755686 pathogenic not specified 2021-07-23 criteria provided, single submitter clinical testing The c.2322_2325delAGAT pathogenic mutation, located in coding exon 21 of the IKBKAP gene, results from a deletion of 4 nucleotides at nucleotide positions 2322 to 2325, causing a translational frameshift with a predicted alternate stop codon (p.D775Lfs*2). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Fulgent Genetics, Fulgent Genetics RCV002497863 SCV002811570 likely pathogenic Medulloblastoma; Familial dysautonomia 2021-10-30 criteria provided, single submitter clinical testing

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