ClinVar Miner

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

gnomAD frequency: 0.00444  dbSNP: rs34957318
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Total submissions: 7
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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
Invitae RCV002054436 SCV002442683 benign not provided 2023-09-27 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: 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.
OMIM RCV000014096 SCV000034344 pathogenic Surfactant metabolism dysfunction, pulmonary, 2 2004-04-01 no assertion criteria provided literature only

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