ClinVar Miner

Submissions for variant NM_014967.5(FAN1):c.2120G>A (p.Trp707Ter)

dbSNP: rs953653119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000030741 SCV002768673 pathogenic Karyomegalic interstitial nephritis 2020-07-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0106 - This gene is known to be associated with autosomal recessive disease. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 8 of 15). (P) 0252 - Variant is homozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0702 - Comparable variants have strong previous evidence for pathogenicity. Other variants also predicted to result in NMD, have been reported in patients with karyomegalic interstitial nephritis (ClinVar, PMID: 22772369, PMID: 32111193). (P) 0803 - Low previous evidence of pathogenicity in unrelated individuals. This variant has been reported in two homozygous siblings with karyomegalic interstitial nephritis (PMID: 22772369). (P) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign
OMIM RCV000030741 SCV000053402 pathogenic Karyomegalic interstitial nephritis 2012-07-08 no assertion criteria provided literature only

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