ClinVar Miner

Submissions for variant NM_152372.4(MYOM3):c.143G>C (p.Arg48Thr)

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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 RCV004646021 SCV005146134 uncertain significance not specified 2024-05-12 criteria provided, single submitter clinical testing The c.143G>C (p.R48T) alteration is located in exon 2 (coding exon 1) of the MYOM3 gene. This alteration results from a G to C substitution at nucleotide position 143, causing the arginine (R) at amino acid position 48 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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