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
Labcorp Genetics (formerly Invitae), Labcorp RCV000765877 SCV003280996 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2025-01-13 criteria provided, single submitter clinical testing 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). This variant is present in population databases (rs748499952, gnomAD 0.009%). 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: 290501). 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 tolerated. 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.
Revvity Omics, Revvity RCV000289729 SCV003825214 uncertain significance not provided 2019-07-17 criteria provided, single submitter clinical testing

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