ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr)

gnomAD frequency: 0.00019  dbSNP: rs149744490
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596603 SCV000706324 uncertain significance not provided 2018-01-31 criteria provided, single submitter clinical testing
Invitae RCV001349015 SCV001543342 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-09-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 7668 of the SYNE1 protein (p.Ser7668Tyr). This variant is present in population databases (rs149744490, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 500403). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV000596603 SCV002098204 uncertain significance not provided 2023-08-28 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
Athena Diagnostics Inc RCV000596603 SCV002771350 uncertain significance not provided 2021-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532526 SCV003747291 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.23003C>A (p.S7668Y) alteration is located in exon 127 (coding exon 126) of the SYNE1 gene. This alteration results from a C to A substitution at nucleotide position 23003, causing the serine (S) at amino acid position 7668 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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