Submissions for variant NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln)

gnomAD frequency: 0.00444  dbSNP: rs34957318

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000014096	SCV000473023	likely benign	Surfactant metabolism dysfunction, pulmonary, 2	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000261074	SCV000473024	likely benign	Interstitial lung disease 2	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Johns Hopkins Genomics, Johns Hopkins University	RCV000014096	SCV000998465	likely benign	Surfactant metabolism dysfunction, pulmonary, 2	2019-08-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000261074	SCV001137598	uncertain significance	Interstitial lung disease 2	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054436	SCV002442683	benign	not provided	2024-10-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336082	SCV002641412	benign	Hereditary pulmonary alveolar proteinosis	2014-09-22	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV002054436	SCV005093404	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SFTPC: BP4, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004700230	SCV005204951	likely benign	not specified	2024-06-26	criteria provided, single submitter	clinical testing
OMIM	RCV000014096	SCV000034344	pathogenic	Surfactant metabolism dysfunction, pulmonary, 2	2004-04-01	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003904835	SCV004727247	likely benign	SFTPC-related disorder	2019-09-20	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).