ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.680T>A (p.Leu227Ter)

dbSNP: rs2141556463
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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 RCV001993118 SCV002233666 pathogenic not provided 2022-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1451132). This variant has not been reported in the literature in individuals affected with ALPK3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu429*) 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).
Ambry Genetics RCV002386814 SCV002691522 likely pathogenic Cardiovascular phenotype 2021-04-12 criteria provided, single submitter clinical testing The p.L429* variant (also known as c.1286T>A), located in coding exon 5 of the ALPK3 gene, results from a T to A substitution at nucleotide position 1286. This changes the amino acid from a leucine to a stop codon within coding exon 5. 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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