ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu)

gnomAD frequency: 0.00001  dbSNP: rs372886271
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672085 SCV000797149 uncertain significance Alstrom syndrome 2018-01-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449701 SCV001652957 uncertain significance not specified 2020-08-14 criteria provided, single submitter clinical testing The p.Gly319Glu variant in ALMS1 has not been previously reported in individuals with Alstrom syndrome but has been identified in 0.0008% (1/113000) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 556129). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2.
Fulgent Genetics, Fulgent Genetics RCV000672085 SCV002790096 uncertain significance Alstrom syndrome 2021-11-05 criteria provided, single submitter clinical testing
Invitae RCV000672085 SCV003459032 uncertain significance Alstrom syndrome 2022-03-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 319 of the ALMS1 protein (p.Gly319Glu). This variant is present in population databases (rs372886271, gnomAD 0.002%). 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: 556129). 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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