ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.880G>A (p.Asp294Asn)

gnomAD frequency: 0.00001  dbSNP: rs772436715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490133 SCV000577420 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing The D294N variant in the SERPINA1 gene has been reported previously, using alternate nomenclature D270N, in a single individual from the general population with reduced alpha-1-antitrypsin who was also heterozygous for the M1 allele (Zorzetto et al., 2008). The D294N variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D294N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret D294N as a variant of uncertain significance.
Counsyl RCV000670695 SCV000795583 uncertain significance Alpha-1-antitrypsin deficiency 2017-11-09 criteria provided, single submitter clinical testing
Mendelics RCV002248715 SCV002519318 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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