ClinVar Miner

Submissions for variant NM_000272.4(NPHP1):c.2100C>T (p.Gly700=) (rs200631256)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730798 SCV000858561 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401330 SCV000415875 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310472 SCV000415876 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365164 SCV000415877 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000310472 SCV000829484 uncertain significance Nephronophthisis 2018-06-23 criteria provided, single submitter clinical testing This sequence change affects codon 700 of the NPHP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NPHP1 protein. This variant is present in population databases (rs200631256, ExAC 0.02%). This variant has not been reported in the literature in individuals with NPHP1-related disease. ClinVar contains an entry for this variant (Variation ID: 330727). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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