ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.1623C>T (p.Pro541=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004552523 SCV004118371 uncertain significance COL4A2-related disorder 2022-11-14 criteria provided, single submitter clinical testing The COL4A2 c.1623C>T variant is not predicted to result in an amino acid change (p.=). However, it is prdicted to modestly activate a cryptic splice acceptor site (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/13-111114487-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV003408725 SCV004135636 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing COL4A2: BP4, BP7

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