ClinVar Miner

Submissions for variant NM_014967.5(FAN1):c.2086C>T (p.Gln696Ter)

dbSNP: rs2062351829
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001251484 SCV001427140 likely pathogenic Karyomegalic interstitial nephritis 2018-08-22 criteria provided, single submitter clinical testing A homozygous nonsense variant, NM_014967.4(FAN1):c.2086C>T, has been identified in exon 8 of 15 of the FAN1 gene (NB: alternative transcripts show this variant to be noncoding). The variant is predicted to result in a premature stop codon at position 696 of the protein (NP_055782.3(FAN1):p.(Gln696*)), likely causing non-sense mediated decay. This variant is predicted to result in loss of protein function through nonsense-mediated decay, which is a reported mechanism of pathogenicity for this gene. However, truncation of the protein, including the loss of VRR_NUC conserved domain, as a result of an NMD-escape mechanism has not been excluded. The variant is absent in population databases (gnomAD, dbSNP, 1000G). This variant has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as LIKELY PATHOGENIC.

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