ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.12581G>C (p.Ser4194Thr)

gnomAD frequency: 0.00089  dbSNP: rs201822010
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Total submissions: 3
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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 RCV000454419 SCV000539807 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Gene has no clear association with PCD, should be removed from gene list. - OB: One variant in the promoter region has been associated with risk for pulmonary fibrosis. The significance of missense variants is unclear.
Ambry Genetics RCV000454419 SCV003590186 uncertain significance not specified 2022-07-20 criteria provided, single submitter clinical testing The c.12581G>C (p.S4194T) alteration is located in exon 31 (coding exon 31) of the MUC5B gene. This alteration results from a G to C substitution at nucleotide position 12581, causing the serine (S) at amino acid position 4194 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357337 SCV001552781 uncertain significance not provided no assertion criteria provided clinical testing

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