ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.1403T>C (p.Phe468Ser)

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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 RCV005389747 SCV006041075 uncertain significance not specified 2024-12-30 criteria provided, single submitter clinical testing The c.1403T>C (p.F468S) alteration is located in exon 14 (coding exon 12) of the MYH8 gene. This alteration results from a T to C substitution at nucleotide position 1403, causing the phenylalanine (F) at amino acid position 468 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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