ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.2545G>A (p.Glu849Lys)

gnomAD frequency: 0.00003  dbSNP: rs774307650
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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 RCV004455196 SCV004944319 uncertain significance not specified 2024-02-05 criteria provided, single submitter clinical testing The c.2545G>A (p.E849K) alteration is located in exon 22 (coding exon 20) of the MYH8 gene. This alteration results from a G to A substitution at nucleotide position 2545, causing the glutamic acid (E) at amino acid position 849 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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