ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.71C>G (p.Ala24Gly)

gnomAD frequency: 0.00624  dbSNP: rs184704920
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591094 SCV000704996 benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000591094 SCV000966277 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ala24Gly in exon 1 of COL4A3: This variant is not expected to have clinical si gnificance because it has been identified in 2.19% (29/1322) of African chromoso mes by the 1000 Genomes Project (Phase 3; dbSNP rs184704920).
Labcorp Genetics (formerly Invitae), Labcorp RCV000888221 SCV001031839 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000888221 SCV001143227 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001143025 SCV001303522 benign Alport syndrome 2017-09-18 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000888221 SCV001898266 benign not provided 2020-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294352 SCV002587508 likely benign Kidney disorder 2019-08-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000888221 SCV004563292 benign not provided 2023-03-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000888221 SCV005243297 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001143025 SCV001453993 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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