ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.1843T>C (p.Ser615Pro)

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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 RCV005373972 SCV006041074 uncertain significance not specified 2024-12-23 criteria provided, single submitter clinical testing The c.1843T>C (p.S615P) alteration is located in exon 16 (coding exon 14) of the MYH8 gene. This alteration results from a T to C substitution at nucleotide position 1843, causing the serine (S) at amino acid position 615 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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