ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.15137A>G (p.Asn5046Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004445236 SCV004934903 uncertain significance not specified 2023-11-28 criteria provided, single submitter clinical testing The c.15137A>G (p.N5046S) alteration is located in exon 33 (coding exon 33) of the MUC5B gene. This alteration results from a A to G substitution at nucleotide position 15137, causing the asparagine (N) at amino acid position 5046 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV004810681 SCV005435773 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing MUC5B: BP4, BS2

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