ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.2920G>T (p.Glu974Ter)

dbSNP: rs2505720978
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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 RCV002337563 SCV002619024 likely pathogenic Cardiovascular phenotype 2020-07-21 criteria provided, single submitter clinical testing The p.E1176* variant (also known as c.3526G>T), located in coding exon 6 of the ALPK3 gene, results from a G to T substitution at nucleotide position 3526. This changes the amino acid from a glutamic acid to a stop codon within coding exon 6. 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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