ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11007C>A (p.Ser3669Arg)

gnomAD frequency: 0.00001  dbSNP: rs761457824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002596093 SCV003499849 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-12-12 criteria provided, single submitter clinical testing This variant is present in population databases (rs761457824, gnomAD 0.02%). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 3654 of the SYNE1 protein (p.Ser3654Arg).
Ambry Genetics RCV002610768 SCV003562270 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.10962C>A (p.S3654R) alteration is located in exon 68 (coding exon 67) of the SYNE1 gene. This alteration results from a C to A substitution at nucleotide position 10962, causing the serine (S) at amino acid position 3654 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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