Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000155085 | SCV000204769 | likely benign | not specified | 2013-08-02 | criteria provided, single submitter | clinical testing | Asn975Ser variant in Exon 22 of DIAPH1: This variant is not expected to have cl inical significance because the asparagine (Asn) residue at position 975 is not well conserved, with many species having a serine (Ser). In addition, this vari ant was identified in 0.02% (2/8380) of European American chromosomes and 0.04% (2/4028) of African American chromosomes by the NHLBI Exome Sequencing Project. |
| Labcorp Genetics |
RCV001850124 | SCV002163804 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 975 of the DIAPH1 protein (p.Asn975Ser). This variant is present in population databases (rs370849059, gnomAD 0.04%). 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: 178341). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine 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. |