ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly)

gnomAD frequency: 0.00001  dbSNP: rs779029779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001313792 SCV001504298 uncertain significance Alstrom syndrome 2022-03-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3620 of the ALMS1 protein (p.Asp3620Gly). This variant is present in population databases (rs779029779, gnomAD 0.007%). 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: 1014983). 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.
Natera, Inc. RCV001313792 SCV002078988 uncertain significance Alstrom syndrome 2021-01-13 no assertion criteria provided clinical testing

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