ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)

dbSNP: rs1962591629
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493508 SCV002798229 likely pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2021-12-16 criteria provided, single submitter clinical testing
Invitae RCV002541755 SCV003220433 pathogenic not provided 2023-04-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the COL4A4 protein in which other variant(s) (p.Arg1682Glyfs*6) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 992428). This premature translational stop signal has been observed in individual(s) with clinical features of COL4A4-related conditions (PMID: 31328266). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1562Metfs*41) in the COL4A4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 129 amino acid(s) of the COL4A4 protein.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280875 SCV001468220 pathogenic Autosomal recessive Alport syndrome 2020-02-07 no assertion criteria provided clinical testing

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