ClinVar Miner

Submissions for variant NM_000542.5(SFTPB):c.529G>A (p.Val177Ile)

gnomAD frequency: 0.00607  dbSNP: rs34550459
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Total submissions: 7
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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 RCV000223574 SCV000269816 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val189Ile in exon 6 of SFTPB: This variant is not expected to have clinical sign ificance because it has been identified in 9.8% (13/132) of Mexican chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov /projects/SNP; dbSNP rs34550459).
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224325 SCV000281563 benign not provided 2016-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372408 SCV000432325 benign Surfactant metabolism dysfunction, pulmonary, 1 2018-01-12 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 RCV000224325 SCV001912570 benign not provided 2020-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000224325 SCV002365586 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347823 SCV002651874 benign Hereditary pulmonary alveolar proteinosis 2016-01-05 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 RCV000224325 SCV005243738 benign not provided criteria provided, single submitter not provided

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