Submissions for variant NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr)

gnomAD frequency: 0.00091  dbSNP: rs114112112

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000905148	SCV001049716	likely benign	not provided	2024-11-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000905148	SCV001996368	uncertain significance	not provided	2019-10-15	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Observed in homozygous state in a clinically unaffected adult relative of an individual referred for genetic testing at GeneDx, however adult-onset of NPHS1-related disorders is possible
Natera, Inc.	RCV001272290	SCV001454162	uncertain significance	Finnish congenital nephrotic syndrome	2020-01-06	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003923054	SCV004747623	likely benign	NPHS1-related disorder	2023-09-21	no assertion criteria provided	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).