ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.9691C>T (p.Arg3231Cys)

gnomAD frequency: 0.00004  dbSNP: rs546650178
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647605 SCV000769403 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2025-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025743 SCV003570934 uncertain significance not specified 2021-09-17 criteria provided, single submitter clinical testing The c.9691C>T (p.R3231C) alteration is located in exon 48 (coding exon 47) of the SYNE2 gene. This alteration results from a C to T substitution at nucleotide position 9691, causing the arginine (R) at amino acid position 3231 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003905752 SCV004723364 likely benign SYNE2-related disorder 2020-11-27 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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