ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys)

gnomAD frequency: 0.00061  dbSNP: rs139466191
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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) RCV000320855 SCV000337801 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing
Invitae RCV001084730 SCV001018739 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000320855 SCV001769480 uncertain significance not provided 2019-11-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002521929 SCV003696477 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.22245T>G (p.N7415K) alteration is located in exon 122 (coding exon 121) of the SYNE1 gene. This alteration results from a T to G substitution at nucleotide position 22245, causing the asparagine (N) at amino acid position 7415 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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