ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala)

gnomAD frequency: 0.00001  dbSNP: rs375830111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668690 SCV000793334 uncertain significance Alstrom syndrome 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV000668690 SCV002227095 uncertain significance Alstrom syndrome 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 187 of the ALMS1 protein (p.Asp187Ala). This variant is not present in population databases (gnomAD no frequency). 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: 553279). 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.
Fulgent Genetics, Fulgent Genetics RCV000668690 SCV002781066 uncertain significance Alstrom syndrome 2021-10-12 criteria provided, single submitter clinical testing

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