Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002595897 | SCV003499778 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2023-08-10 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 2181912). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is present in population databases (rs547070097, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 480 of the DIAPH1 protein (p.Lys480Thr). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. |