ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.445C>G (p.Pro149Ala)

gnomAD frequency: 0.00010  dbSNP: rs548601003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002200151 SCV002351291 benign not provided 2021-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738514 SCV005358818 uncertain significance COL4A2-related disorder 2024-03-06 no assertion criteria provided clinical testing The COL4A2 c.445C>G variant is predicted to result in the amino acid substitution p.Pro149Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.079% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be benign, 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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