ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser)

dbSNP: rs1416369642
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069721 SCV001234911 uncertain significance Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2019-04-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 324 of the DCDC2 protein (p.Ala324Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DCDC2-related conditions. 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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