ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter)

dbSNP: rs104886217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000021478 SCV000889955 pathogenic X-linked Alport syndrome 2017-10-18 criteria provided, single submitter clinical testing
Invitae RCV001240569 SCV001413529 pathogenic not provided 2022-12-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 24599). This premature translational stop signal has been observed in individual(s) with clinical features of Alport syndrome (PMID: 9848783). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly1060*) in the COL4A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805).

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