ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5090C>T (p.Pro1697Leu)

dbSNP: rs2103785051
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001955838 SCV002224158 uncertain significance Alstrom syndrome 2021-07-28 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1698 of the ALMS1 protein (p.Pro1698Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. 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.

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