ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.2561C>T (p.Thr854Ile)

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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 RCV004828870 SCV005458034 uncertain significance not specified 2024-08-01 criteria provided, single submitter clinical testing The c.2561C>T (p.T854I) alteration is located in exon 22 (coding exon 20) of the MYH8 gene. This alteration results from a C to T substitution at nucleotide position 2561, causing the threonine (T) at amino acid position 854 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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