ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.184G>A (p.Val62Ile)

gnomAD frequency: 0.00006  dbSNP: rs371294844
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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 RCV004074517 SCV003532989 uncertain significance not specified 2022-01-26 criteria provided, single submitter clinical testing The c.184G>A (p.V62I) alteration is located in exon 3 (coding exon 1) of the MYH8 gene. This alteration results from a G to A substitution at nucleotide position 184, causing the valine (V) at amino acid position 62 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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