ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.4933C>G (p.Leu1645Val)

dbSNP: rs1555431632
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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 RCV000647558 SCV000769354 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-08-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1645 of the SYNE2 protein (p.Leu1645Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of limb girdle muscular dystrophy (PMID: 35741838). ClinVar contains an entry for this variant (Variation ID: 538346). 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.

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