ClinVar Miner

Submissions for variant NM_000717.5(CA4):c.923C>A (p.Ala308Asp)

gnomAD frequency: 0.00010  dbSNP: rs201580764
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726745 SCV000577486 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing The A308D variant in the CA4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A308D variant is observed in 22/7866 (0.28%) alleles from individuals of East Asian background, in the ExAC dataset (Lek et al., 2016). The A308D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A308D as a variant of uncertain significance.
Eurofins Ntd Llc (ga) RCV000726745 SCV000702705 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
Invitae RCV000726745 SCV001061107 likely benign not provided 2023-12-05 criteria provided, single submitter clinical testing

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