ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.96G>T (p.Gln32His)

dbSNP: rs776102193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730436 SCV000858171 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001527054 SCV001737889 uncertain significance not specified 2021-06-09 criteria provided, single submitter clinical testing Variant summary: NPHP4 c.96G>T (p.Gln32His) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 249002 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.96G>T in individuals affected with Nephronophthisis 4 and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002493326 SCV002783549 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2022-04-11 criteria provided, single submitter clinical testing

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