ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser)

gnomAD frequency: 0.00011  dbSNP: rs148212715
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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) RCV000713578 SCV000338288 uncertain significance not provided 2016-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713578 SCV000844203 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000809728 SCV000949899 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-10-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 3602 of the SYNE1 protein (p.Asn3602Ser). This variant is present in population databases (rs148212715, gnomAD 0.03%). This missense change has been observed in individual(s) with cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment (PMID: 30275942). ClinVar contains an entry for this variant (Variation ID: 285321). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000713578 SCV003824682 uncertain significance not provided 2019-08-27 criteria provided, single submitter clinical testing

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