ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met)

gnomAD frequency: 0.00011  dbSNP: rs373630097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000870248 SCV001011737 likely benign Alpha-1-antitrypsin deficiency 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000870248 SCV001277339 uncertain significance Alpha-1-antitrypsin deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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