ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) (rs201671013)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000597276 SCV000705460 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764366 SCV000895400 uncertain significance Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825318 SCV000966613 uncertain significance not specified 2018-10-09 criteria provided, single submitter clinical testing The p.Phe1504Leu variant in COL4A3 was identified in the heterozygous state in 1 Portuguese individual with Alport syndrome or thin basement membrane nephropath y (Sa 2015). It has also been identified in several populations by gnomAD, inclu ding 0.09% (9/10150) of Ashkenazi Jewish chromosomes and 0.02% (30/126604) of Eu ropean chromosomes ( Computational prediction tools and conservation analysis suggest that this variant may impact the protein , though this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of this variant is uncertain. ACMG/AMP Crit eria applied: PP3, BS1_Supporting.
Mendelics RCV000987048 SCV001136236 uncertain significance Alport syndrome, autosomal recessive 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139014 SCV001299120 uncertain significance Alport syndrome 2017-04-28 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000597276 SCV001875227 uncertain significance not provided 2021-06-09 criteria provided, single submitter clinical testing Observed in a patient reported to have Alport syndrome and thin basement membrane nephropathy in the published literature, however, additional information on this patient was not available (Nabais et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25307543, 27535533)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000597276 SCV001963149 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000597276 SCV001970199 uncertain significance not provided no assertion criteria provided clinical testing

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