ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp)

gnomAD frequency: 0.00011  dbSNP: rs781577050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512994 SCV000609182 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000652766 SCV000774637 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1105 of the DIAPH1 protein (p.Arg1105Trp). This variant is present in population databases (rs781577050, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 444663). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375335 SCV001572053 likely benign Beta-D-mannosidosis 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BS2_Strong, BP4_Supporting

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