ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.1223C>T (p.Thr408Ile)

gnomAD frequency: 0.00001  dbSNP: rs1367144327
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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 RCV001891336 SCV002165050 uncertain significance Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2022-05-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant has not been reported in the literature in individuals affected with DCDC2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 408 of the DCDC2 protein (p.Thr408Ile).

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