ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25907A>G (p.His8636Arg)

gnomAD frequency: 0.00005  dbSNP: rs759004104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243898 SCV001417085 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-02-10 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 968702). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs759004104, gnomAD 0.01%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 8588 of the SYNE1 protein (p.His8588Arg).
Ambry Genetics RCV002564078 SCV003571995 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.25763A>G (p.H8588R) alteration is located in exon 143 (coding exon 142) of the SYNE1 gene. This alteration results from a A to G substitution at nucleotide position 25763, causing the histidine (H) at amino acid position 8588 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003142215 SCV003825281 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing

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