Submissions for variant NM_025215.6(PUS1):c.1214C>T (p.Thr405Met)

gnomAD frequency: 0.00233  dbSNP: rs149378338

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001111978	SCV000886034	likely benign	Myopathy, lactic acidosis, and sideroblastic anemia 1	2022-03-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757709	SCV000892052	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	PUS1: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000757709	SCV001029368	likely benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001111978	SCV001269588	likely benign	Myopathy, lactic acidosis, and sideroblastic anemia 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.
GeneDx	RCV000757709	SCV001795851	likely benign	not provided	2020-09-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001825501	SCV002091064	benign	Myopathy, lactic acidosis, and sideroblastic anemia	2019-10-21	no assertion criteria provided	clinical testing