ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.613C>T (p.Pro205Ser)

dbSNP: rs1439430129
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002245543 SCV002515860 uncertain significance 8q24.3 microdeletion syndrome 2022-05-20 criteria provided, single submitter clinical testing A comparison with the gnomAD browser did not provide any evidence that this sequence change is a norm variant that can also be detected in non-affected individuals. The mutation is currently not listed in ClinVar or in the HGMD database; the mutation is located in a protein domain of PUF60 and affects a highly conserved amino acid; the mutation is independently classified as deleterious by the majority of prediction programs; the following ACMG criteria were applied for classification: PM2, PP2, PP3.

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