ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser) (rs55816283)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243309 SCV000302073 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000243309 SCV000717917 likely benign not specified 2018-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000243309 SCV000967195 likely benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro1109Ser in exon 38 of COL4A3: This variant is not expected to have clinical significance because it has been identified in 0.56% (376/66566) of European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs55816283).
Invitae RCV000954602 SCV001101247 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001138911 SCV001299005 uncertain significance Alport syndrome 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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