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 RCV000713677 SCV000844304 uncertain significance not provided 2018-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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 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. 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. ClinVar contains an entry for this variant (Variation ID: 586742). 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). This variant is present in population databases (rs772266857, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions.

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