ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe)

gnomAD frequency: 0.00019  dbSNP: rs201466326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000326039 SCV000335823 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079812 SCV001018942 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-07-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001079812 SCV003826509 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021140 SCV004961393 uncertain significance not specified 2024-01-03 criteria provided, single submitter clinical testing The c.9315A>C (p.L3105F) alteration is located in exon 48 (coding exon 47) of the SYNE2 gene. This alteration results from a A to C substitution at nucleotide position 9315, causing the leucine (L) at amino acid position 3105 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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