ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2692A>G (p.Arg898Gly)

dbSNP: rs1560003115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV003338768 SCV004047399 uncertain significance Renal-hepatic-pancreatic dysplasia 1 criteria provided, single submitter clinical testing The c.2692A>G (p.Arg898Gly) missense variant in NPHP3 gene has been submitted to ClinVar as a Variant of Uncertain Significance, but no details are available for independent assessment. It has not been reported in affected individuals. The p.Arg898Gly variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Arg at position 898 is changed to a Gly changing protein sequence and it might alter its composition and physicochemical properties. The amino acid change p.Arg898Gly in NPHP3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).
Gharavi Laboratory, Columbia University RCV000722275 SCV000853406 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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