ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4942C>T (p.Pro1648Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002895324 SCV003244476 uncertain significance Alstrom syndrome 2022-04-08 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. This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1649 of the ALMS1 protein (p.Pro1649Ser).
PreventionGenetics, part of Exact Sciences RCV004741338 SCV005363590 uncertain significance ALMS1-related disorder 2024-09-25 no assertion criteria provided clinical testing The ALMS1 c.4945C>T variant is predicted to result in the amino acid substitution p.Pro1649Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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