ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9169G>A (p.Gly3057Ser)

gnomAD frequency: 0.00001  dbSNP: rs766846025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595505 SCV000706321 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854058 SCV002256052 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-07-13 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 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. ClinVar contains an entry for this variant (Variation ID: 500401). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs766846025, ExAC 0.01%). This sequence change replaces glycine with serine at codon 3064 of the SYNE1 protein (p.Gly3064Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.

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