ClinVar Miner

Submissions for variant NM_024580.6(EFL1):c.1232T>A (p.Ile411Asn)

gnomAD frequency: 0.00001  dbSNP: rs775430621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000787950 SCV000926971 uncertain significance Shwachman-Diamond syndrome 2 2018-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873213 SCV002196421 uncertain significance not provided 2022-07-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 636244). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with EFL1-related conditions. This variant is present in population databases (rs775430621, gnomAD 0.002%). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 411 of the EFL1 protein (p.Ile411Asn).

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