Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002033110 | SCV002113624 | uncertain significance | Alstrom syndrome | 2022-09-06 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 300 of the ALMS1 protein (p.Pro300Leu). This variant is present in population databases (rs199899389, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1347416). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Fulgent Genetics, |
RCV002033110 | SCV002785429 | uncertain significance | Alstrom syndrome | 2022-03-21 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004038765 | SCV003562217 | uncertain significance | Cardiovascular phenotype | 2022-10-28 | criteria provided, single submitter | clinical testing | The c.899C>T (p.P300L) alteration is located in exon 5 (coding exon 5) of the ALMS1 gene. This alteration results from a C to T substitution at nucleotide position 899, causing the proline (P) at amino acid position 300 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |