ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3825C>T (p.His1275=)

dbSNP: rs143380907
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730422 SCV000858157 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825061 SCV000966278 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.His1275His in exon 43 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.55% (53/9674) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs143380907).
Labcorp Genetics (formerly Invitae), Labcorp RCV000730422 SCV001023006 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001143339 SCV001303859 uncertain significance Alport syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000730422 SCV001778288 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276572 SCV001462970 likely benign Autosomal dominant Alport syndrome 2020-06-02 no assertion criteria provided clinical testing

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