ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala)

dbSNP: rs200713879
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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 RCV002156729 SCV002324470 likely benign not provided 2023-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551294 SCV003609476 uncertain significance Inborn genetic diseases 2021-10-22 criteria provided, single submitter clinical testing The c.4117C>G (p.P1373A) alteration is located in exon 16 (coding exon 16) of the SPEG gene. This alteration results from a C to G substitution at nucleotide position 4117, causing the proline (P) at amino acid position 1373 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003138068 SCV003820019 uncertain significance Myopathy, centronuclear, 5 2019-06-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002156729 SCV005258906 likely benign not provided criteria provided, single submitter not provided

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