ClinVar Miner

Submissions for variant NM_000542.5(SFTPB):c.48G>A (p.Thr16=)

gnomAD frequency: 0.02497  dbSNP: rs3024793
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Total submissions: 5
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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 RCV000151853 SCV000200330 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr28Thr in exon 2 of SFTPB: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 12.4% (24/194) of Luh ya (Kenyan) chromosomes from a broad population by the 1000 Genomes Project (htt p://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs3024793).
Illumina Laboratory Services, Illumina RCV000283490 SCV000432329 benign Surfactant metabolism dysfunction, pulmonary, 1 2018-01-13 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 RCV001651020 SCV001865083 benign not provided 2019-03-24 criteria provided, single submitter clinical testing
Invitae RCV001651020 SCV002402895 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444626 SCV002679004 benign Hereditary pulmonary alveolar proteinosis 2016-07-08 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.

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