ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)

dbSNP: rs547495754
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596610 SCV000704371 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001002694 SCV001156395 pathogenic Senior-Loken syndrome 4 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV001416064 SCV001618234 likely benign Nephronophthisis 2024-01-02 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002286526 SCV002574910 uncertain significance Nephronophthisis 4 2022-08-08 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 16 of the NPHP4 gene (chr1:g.5904731G>A; Depth: 156x) that results in the amino acid substitution of Serine for Proline at codon 677 (p.Pro677Ser; ENST00000378156.9) was detected (Table). This variant has a minor allele frequency of 0.1%, 0.006% in the 1000 genomes, gnomAD . The in silico predictions# of the variant are probably damaging by PolyPhen-2 (HumDiv), damaging by SIFT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to classified as variant of uncertain significance.

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