ClinVar Miner

Submissions for variant NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) (rs140446520)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153590 SCV000203129 likely benign not specified 2018-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515315 SCV000611414 uncertain significance Joubert syndrome 4; Nephronophthisis 1; Senior-Loken syndrome 1 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000153590 SCV000572850 uncertain significance not specified 2017-02-03 criteria provided, single submitter clinical testing The Y78H variant in the NPHP1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Y78H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the Y78H variant is observed in 133/66668 (0.19%) alleles from individuals of non-Finnish European background, including one homozygote, in the ExAC dataset (Lek et al., 2016). Therefore, we interpret Y78H as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000372811 SCV000415929 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000195676 SCV000415930 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338020 SCV000415931 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000195676 SCV000254520 likely benign Nephronophthisis 2017-06-26 criteria provided, single submitter clinical testing

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