ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr)

gnomAD frequency: 0.00016  dbSNP: rs183480366
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731829 SCV000859682 uncertain significance not provided 2018-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855668 SCV002165673 uncertain significance Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 356 of the DCDC2 protein (p.Ala356Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs183480366, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with DCDC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 596110). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002477709 SCV002791424 uncertain significance Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 2024-05-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000731829 SCV003917031 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing DCDC2: BP4
Ambry Genetics RCV004027020 SCV004853809 uncertain significance Inborn genetic diseases 2023-11-27 criteria provided, single submitter clinical testing The c.1066G>A (p.A356T) alteration is located in exon 9 (coding exon 9) of the DCDC2 gene. This alteration results from a G to A substitution at nucleotide position 1066, causing the alanine (A) at amino acid position 356 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000731829 SCV005439316 uncertain significance not provided 2024-06-21 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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