Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001944430 | SCV002214758 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2023-05-03 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1433428). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 618 of the DIAPH1 protein (p.Pro618Leu). |
| Ambry Genetics | RCV004612016 | SCV005104595 | uncertain significance | Inborn genetic diseases | 2024-05-30 | criteria provided, single submitter | clinical testing | The c.1853C>T (p.P618L) alteration is located in exon 16 (coding exon 16) of the DIAPH1 gene. This alteration results from a C to T substitution at nucleotide position 1853, causing the proline (P) at amino acid position 618 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |