ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile)

dbSNP: rs772187394
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239176 SCV001412027 uncertain significance Alstrom syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2056 of the ALMS1 protein (p.Asn2056Ile). This variant is present in population databases (rs772187394, gnomAD 0.01%). 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: 964863). 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. RCV001239176 SCV002082823 uncertain significance Alstrom syndrome 2021-05-24 no assertion criteria provided clinical testing

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