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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870248 SCV001011737 likely benign Alpha-1-antitrypsin deficiency 2024-11-12 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.
PreventionGenetics, part of Exact Sciences RCV004749497 SCV005348597 uncertain significance SERPINA1-related disorder 2024-08-21 no assertion criteria provided clinical testing The SERPINA1 c.1069G>A variant is predicted to result in the amino acid substitution p.Val357Met. This variant was reported in an individual with Alpha-1-antitrypsin deficiency (Arora et al 2010. PubMed ID: 20453271; Giacopuzzi E et al 2018. PubMed ID: 29882371; Kueppers F et al 2019. PubMed ID: 31307431). This variant is reported in 0.34% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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