ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp)

gnomAD frequency: 0.00001  dbSNP: rs776415168
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335812 SCV001529050 uncertain significance Autosomal recessive nonsyndromic hearing loss 66 2018-04-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002499662 SCV002814207 uncertain significance Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 2021-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918863 SCV004735202 uncertain significance DCDC2-related disorder 2023-12-21 criteria provided, single submitter clinical testing The DCDC2 c.278C>A variant is predicted to result in the amino acid substitution p.Ala93Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-24357701-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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