ClinVar Miner

Submissions for variant NM_001130965.3(SUN1):c.16C>A (p.Leu6Ile)

gnomAD frequency: 0.00001  dbSNP: rs777969470
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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 RCV000694307 SCV000822745 uncertain significance Emery-Dreifuss muscular dystrophy 2022-06-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 572823). This variant has not been reported in the literature in individuals affected with SUN1-related conditions. This variant is present in population databases (rs777969470, gnomAD 0.003%). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 6 of the SUN1 protein (p.Leu6Ile). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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