ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val)

gnomAD frequency: 0.00003  dbSNP: rs199581317
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000604763 SCV000711813 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ala401Val in exon 19 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 2.02% (333/16454) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs199581317).
Labcorp Genetics (formerly Invitae), Labcorp RCV000916224 SCV001061457 benign not provided 2024-12-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001138497 SCV001298556 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000916224 SCV001752980 benign not provided 2020-03-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294355 SCV002587515 likely benign Kidney disorder 2020-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001138497 SCV001464045 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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