ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.206C>T (p.Thr69Met)

gnomAD frequency: 0.00016  dbSNP: rs768017689
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000894542 SCV001038530 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329477 SCV001520930 uncertain significance Myopathy, centronuclear, 5 2020-01-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002539428 SCV003690246 uncertain significance Inborn genetic diseases 2022-06-13 criteria provided, single submitter clinical testing The c.206C>T (p.T69M) alteration is located in exon 1 (coding exon 1) of the SPEG gene. This alteration results from a C to T substitution at nucleotide position 206, causing the threonine (T) at amino acid position 69 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001329477 SCV003820008 uncertain significance Myopathy, centronuclear, 5 2022-05-05 criteria provided, single submitter clinical testing

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