ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.650T>C (p.Leu217Pro)

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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 RCV003485858 SCV003819313 uncertain significance Eichsfeld type congenital muscular dystrophy 2019-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004961219 SCV005495036 uncertain significance Inborn genetic diseases 2024-07-09 criteria provided, single submitter clinical testing The c.650T>C (p.L217P) alteration is located in exon 5 (coding exon 5) of the SEPN1 gene. This alteration results from a T to C substitution at nucleotide position 650, causing the leucine (L) at amino acid position 217 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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