ClinVar Miner

Submissions for variant NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn)

gnomAD frequency: 0.20729  dbSNP: rs4715
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151856 SCV000200333 benign not specified 2013-06-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387624 SCV000473015 benign Interstitial lung disease 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289134 SCV000473016 benign Pulmonary Surfactant Metabolism Dysfunction, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311252 SCV000484320 likely benign Osteogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001160261 SCV001322049 benign Surfactant metabolism dysfunction, pulmonary, 2 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001618306 SCV001843159 benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14735158)
Labcorp Genetics (formerly Invitae), Labcorp RCV001618306 SCV002448703 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326871 SCV002627210 benign Hereditary pulmonary alveolar proteinosis 2015-10-26 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.
Breakthrough Genomics, Breakthrough Genomics RCV001618306 SCV005222822 likely benign not provided criteria provided, single submitter not provided

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