ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile)

gnomAD frequency: 0.01346  dbSNP: rs77104306
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400087 SCV000428066 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics RCV000517669 SCV000612970 benign not specified 2017-05-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000517669 SCV000711824 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Met1552Ile in exon 47 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 4.72% (458/9710) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs77104306).
GeneDx RCV000842036 SCV000984029 benign not provided 2018-04-26 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.
Invitae RCV000842036 SCV001109068 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294290 SCV002587275 benign Focal segmental glomerulosclerosis 2022-08-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000400087 SCV002078858 likely benign Alport syndrome 2019-12-03 no assertion criteria provided clinical testing

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