ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.1438del (p.Arg480fs)

dbSNP: rs1963653131
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946641 SCV002235128 pathogenic not provided 2024-04-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg682Glufs*23) in the ALPK3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALPK3 are known to be pathogenic (PMID: 21441111, 26846950, 27106955, 34263907). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALPK3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1455524). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002423140 SCV002719821 likely pathogenic Cardiovascular phenotype 2021-06-24 criteria provided, single submitter clinical testing The c.2044delA variant, located in coding exon 5 of the ALPK3 gene, results from a deletion of one nucleotide at nucleotide position 2044, causing a translational frameshift with a predicted alternate stop codon (p.R682Efs*23). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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