ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs)

dbSNP: rs1557580413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380731 SCV001578883 pathogenic Nephronophthisis 2014-08-09 criteria provided, single submitter clinical testing This sequence change results in a small deletion defined as c.3930_3939del, which is predicted to cause a translational frameshift and premature protein termination (p.Asp1311SerfsX92).  A frameshift in the NPHP4 gene is expected to be pathogenic. This sequence has not been reported in the literature and is not seen in the general population. In summary, this is a novel homozygous frameshift deletion that has been identified in an individual with NPHP4-related symptoms.  It has been classified as Pathogenic.
Gharavi Laboratory, Columbia University RCV000681824 SCV000809299 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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