ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.4414G>A (p.Ala1472Thr)

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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 RCV004649788 SCV005143125 uncertain significance not specified 2024-04-18 criteria provided, single submitter clinical testing The c.4414G>A (p.A1472T) alteration is located in exon 32 (coding exon 30) of the MYH8 gene. This alteration results from a G to A substitution at nucleotide position 4414, causing the alanine (A) at amino acid position 1472 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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