ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser)

gnomAD frequency: 0.00001  dbSNP: rs1045405319
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665049 SCV000789107 uncertain significance Alstrom syndrome 2017-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000665049 SCV002815180 uncertain significance Alstrom syndrome 2021-11-02 criteria provided, single submitter clinical testing
Invitae RCV000665049 SCV002949781 uncertain significance Alstrom syndrome 2022-07-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 10 of the ALMS1 protein (p.Gly10Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 550329). 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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