ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.3893A>G (p.Asp1298Gly)

dbSNP: rs1337119789
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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 RCV004347576 SCV004060945 uncertain significance not specified 2023-08-28 criteria provided, single submitter clinical testing The c.3893A>G (p.D1298G) alteration is located in exon 29 (coding exon 27) of the MYH8 gene. This alteration results from a A to G substitution at nucleotide position 3893, causing the aspartic acid (D) at amino acid position 1298 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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