ClinVar Miner

Submissions for variant NM_002472.3(MYH8):c.1333C>T (p.Arg445Cys)

gnomAD frequency: 0.00006  dbSNP: rs372766209
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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 RCV004207372 SCV003706743 uncertain significance not specified 2021-11-30 criteria provided, single submitter clinical testing The c.1333C>T (p.R445C) alteration is located in exon 14 (coding exon 12) of the MYH8 gene. This alteration results from a C to T substitution at nucleotide position 1333, causing the arginine (R) at amino acid position 445 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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