ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.6415C>G (p.Arg2139Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003493176 SCV004237652 uncertain significance Myopathy, centronuclear, 5 2023-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004673900 SCV005172092 uncertain significance Inborn genetic diseases 2024-05-24 criteria provided, single submitter clinical testing The c.6415C>G (p.R2139G) alteration is located in exon 30 (coding exon 30) of the SPEG gene. This alteration results from a C to G substitution at nucleotide position 6415, causing the arginine (R) at amino acid position 2139 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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