ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.169G>A (p.Asp57Asn)

gnomAD frequency: 0.00003  dbSNP: rs773881728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247586 SCV001421016 uncertain significance Alstrom syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 58 of the ALMS1 protein (p.Asp58Asn). This variant is present in population databases (rs773881728, gnomAD 0.02%). 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: 971737). 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. RCV001247586 SCV002080372 uncertain significance Alstrom syndrome 2021-04-07 no assertion criteria provided clinical testing

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