ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.3821A>G (p.Asn1274Ser)

gnomAD frequency: 0.00007  dbSNP: rs372019710
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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 RCV004170576 SCV003658579 uncertain significance not specified 2022-11-01 criteria provided, single submitter clinical testing The c.3821A>G (p.N1274S) alteration is located in exon 28 (coding exon 26) of the MYH8 gene. This alteration results from a A to G substitution at nucleotide position 3821, causing the asparagine (N) at amino acid position 1274 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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