ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.4087G>A (p.Ala1363Thr)

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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 RCV005373975 SCV006041078 uncertain significance not specified 2025-01-16 criteria provided, single submitter clinical testing The c.4087G>A (p.A1363T) alteration is located in exon 30 (coding exon 28) of the MYH8 gene. This alteration results from a G to A substitution at nucleotide position 4087, causing the alanine (A) at amino acid position 1363 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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