ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.835C>G (p.Gln279Glu)

dbSNP: rs1216199703
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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 RCV004310645 SCV003975297 uncertain significance not specified 2023-04-07 criteria provided, single submitter clinical testing The c.835C>G (p.Q279E) alteration is located in exon 10 (coding exon 8) of the MYH8 gene. This alteration results from a C to G substitution at nucleotide position 835, causing the glutamine (Q) at amino acid position 279 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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