Submissions for variant NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)

gnomAD frequency: 0.00211  dbSNP: rs142021049

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000259061	SCV000114702	likely benign	not specified	2016-01-12	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000082660	SCV000280641	uncertain significance	not provided	2015-10-29	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Invitae	RCV001086780	SCV000562266	likely benign	Nephronophthisis	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000082660	SCV000976844	likely benign	not provided	2021-01-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17855640, 12872122)
Illumina Laboratory Services, Illumina	RCV001145352	SCV001306021	uncertain significance	Nephronophthisis 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001145353	SCV001306022	uncertain significance	NPHP3-related Meckel-like syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001145354	SCV001306023	likely benign	Renal-hepatic-pancreatic dysplasia 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002251973	SCV002523156	likely benign	See cases	2021-05-20	criteria provided, single submitter	clinical testing	ACMG classification criteria: BS2, BP4
Genetics and Molecular Pathology, SA Pathology	RCV001145354	SCV002556714	uncertain significance	Renal-hepatic-pancreatic dysplasia 1	2020-06-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004529870	SCV004741232	likely benign	NPHP3-related disorder	2021-03-26	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).