ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2329G>T (p.Val777Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002298017 SCV002590031 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-05-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 777 of the DIAPH1 protein (p.Val777Leu). 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. 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. ClinVar contains an entry for this variant (Variation ID: 1720228). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is present in population databases (rs768267621, gnomAD 0.0009%).

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