ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) (rs104886374)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory,Columbia University RCV000681846 SCV000809323 likely pathogenic not provided 2018-09-16 criteria provided, single submitter research
Invitae RCV000681846 SCV001407268 uncertain significance not provided 2019-11-12 criteria provided, single submitter clinical testing This variant, c.2965_2982del, results in the deletion of 6 amino acid(s) of the COL4A5 protein (p.Asp989_Gly994del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Alport syndrome (PMID: 10094548, Invitae). ClinVar contains an entry for this variant (Variation ID: 24580). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Research and Development, ARUP Laboratories RCV000021459 SCV000042125 pathogenic Alport syndrome 1, X-linked recessive 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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