ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu)

gnomAD frequency: 0.00054  dbSNP: rs201578201
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000896120 SCV001040197 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000896120 SCV001143239 benign not provided 2018-12-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001140097 SCV001300312 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195314 SCV001365650 benign not specified 2019-09-13 criteria provided, single submitter clinical testing The p.Pro1330Leu variant in COL4A4 is classified as benign because it has been identified in 2% (214/10260) of Ashkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx RCV000896120 SCV001839779 benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001140097 SCV001452703 benign Alport syndrome 2019-12-30 no assertion criteria provided clinical testing

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