Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235055 | SCV001407719 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2019-10-28 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals with DIAPH1-related conditions. This variant is present in population databases (rs532196989, ExAC 0.01%). This sequence change replaces methionine with threonine at codon 256 of the DIAPH1 protein (p.Met256Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. |
Gene |
RCV001751460 | SCV001988277 | uncertain significance | not provided | 2019-01-28 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002563819 | SCV003631542 | uncertain significance | Inborn genetic diseases | 2022-07-08 | criteria provided, single submitter | clinical testing | The c.767T>C (p.M256T) alteration is located in exon 8 (coding exon 8) of the DIAPH1 gene. This alteration results from a T to C substitution at nucleotide position 767, causing the methionine (M) at amino acid position 256 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |