ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) (rs72969704)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000299569 SCV000428070 uncertain significance 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, 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, Partners HealthCare Personalized Medicine RCV000825145 SCV000966411 likely benign not specified 2018-03-21 criteria provided, single submitter clinical testing p.Ile1450Thr in exon 46 of COL4A4: This variant is classified as likely benign d ue to a lack of conservation across species, including mammals. Of note, >10 mam mals have a Threonine (Thr) at this position despite high nearby amino acid cons ervation. In addition, computational prediction tools do not suggest a high like lihood of impact to the protein. This variant has been identified in 69/115858 E uropean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org/; dbSNP rs72969704). ACMG/AMP Criteria applied: BP4_Strong.
Invitae RCV000899615 SCV001043895 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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