ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.16376C>T (p.Pro5459Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004825844 SCV005447957 uncertain significance not specified 2024-08-27 criteria provided, single submitter clinical testing The c.16376C>T (p.P5459L) alteration is located in exon 41 (coding exon 41) of the MUC5B gene. This alteration results from a C to T substitution at nucleotide position 16376, causing the proline (P) at amino acid position 5459 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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