ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5392G>T (p.Asp1798Tyr)

gnomAD frequency: 0.00006  dbSNP: rs772266857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713677 SCV000844304 uncertain significance not provided 2018-01-03 criteria provided, single submitter clinical testing
Invitae RCV003768111 SCV004568017 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-03-27 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 586742). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs772266857, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1805 of the SYNE1 protein (p.Asp1805Tyr).

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