ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.4651A>G (p.Ile1551Val)

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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 RCV003140721 SCV003818296 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004867861 SCV005510940 uncertain significance not specified 2024-09-02 criteria provided, single submitter clinical testing The c.4651A>G (p.I1551V) alteration is located in exon 32 (coding exon 31) of the SYNE2 gene. This alteration results from a A to G substitution at nucleotide position 4651, causing the isoleucine (I) at amino acid position 1551 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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