ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)

gnomAD frequency: 0.00012  dbSNP: rs376076241
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791155 SCV000930429 uncertain significance Myopathy, centronuclear, 5 2019-04-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310771 SCV001500705 uncertain significance not provided 2021-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001310771 SCV002446866 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535832 SCV003681805 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.7262C>T (p.P2421L) alteration is located in exon 30 (coding exon 30) of the SPEG gene. This alteration results from a C to T substitution at nucleotide position 7262, causing the proline (P) at amino acid position 2421 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003918270 SCV004737107 likely benign SPEG-related disorder 2019-11-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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