Submissions for variant NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala)

gnomAD frequency: 0.00025  dbSNP: rs141905538

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001139492	SCV001299656	uncertain significance	Surfactant metabolism dysfunction, pulmonary, 1	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV003163307	SCV003912499	uncertain significance	Hereditary pulmonary alveolar proteinosis	2023-02-18	criteria provided, single submitter	clinical testing	The p.P133A variant (also known as c.397C>G), located in coding exon 4 of the SFTPB gene, results from a C to G substitution at nucleotide position 397. The proline at codon 133 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001139492	SCV004176017	pathogenic	Surfactant metabolism dysfunction, pulmonary, 1	2023-11-13	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PM2_SUP,PM3_SUP
Breakthrough Genomics, Breakthrough Genomics	RCV004694861	SCV005187786	uncertain significance	not provided		criteria provided, single submitter	not provided