ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3087T>C (p.Asn1029=)

gnomAD frequency: 0.00001  dbSNP: rs770801617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756748 SCV000884652 likely benign not provided 2018-05-18 criteria provided, single submitter clinical testing The p.Asn1036Asn variant (rs770801617) does not alter the amino acid sequence of the SYNE1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.002 percent (identified on 4 out of 246,200 chromosomes). Based on these observations, the p.Asn1036Asn variant is likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV003768271 SCV001031116 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-10-30 criteria provided, single submitter clinical testing

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