ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=)

gnomAD frequency: 0.47874  dbSNP: rs2228557
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247000 SCV000302125 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291655 SCV000428061 benign Alport syndrome 2018-01-12 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000247000 SCV000711841 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Phe1644Phe in exon 48 of COL4A4: 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 63.69% (842/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs2228557).
GeneDx RCV000247000 SCV000716961 benign not specified 2017-05-09 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.
Athena Diagnostics Inc RCV000710858 SCV000841164 benign not provided 2017-04-03 criteria provided, single submitter clinical testing
Invitae RCV000710858 SCV001718515 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658138 SCV001875767 benign Autosomal recessive Alport syndrome 2021-07-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000291655 SCV001459912 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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