ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7444G>A (p.Val2482Ile)

gnomAD frequency: 0.00002  dbSNP: rs375687383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319478 SCV001510222 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1019968). 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 disruptive. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs375687383, gnomAD 0.008%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2489 of the SYNE1 protein (p.Val2489Ile).

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