ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.13832C>T (p.Thr4611Met)

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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 RCV004825825 SCV005447934 uncertain significance not specified 2024-11-10 criteria provided, single submitter clinical testing The c.13832C>T (p.T4611M) alteration is located in exon 31 (coding exon 31) of the MUC5B gene. This alteration results from a C to T substitution at nucleotide position 13832, causing the threonine (T) at amino acid position 4611 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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