ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu)

gnomAD frequency: 0.00002  dbSNP: rs748499952
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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) RCV000289729 SCV000345068 uncertain significance not provided 2018-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765877 SCV000897277 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765877 SCV003280996 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-08 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 290501). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs748499952, gnomAD 0.009%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3364 of the SYNE1 protein (p.Pro3364Leu).
Revvity Omics, Revvity RCV000289729 SCV003825214 uncertain significance not provided 2019-07-17 criteria provided, single submitter clinical testing

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