ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser)

gnomAD frequency: 0.00019  dbSNP: rs192863498
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997166 SCV001152352 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Invitae RCV001247402 SCV001420822 uncertain significance Alstrom syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1767 of the ALMS1 protein (p.Asn1767Ser). This variant is present in population databases (rs192863498, gnomAD 0.08%). 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: 808771). 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.
Ambry Genetics RCV002346204 SCV002647198 likely benign Cardiovascular phenotype 2023-04-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV001247402 SCV002814024 uncertain significance Alstrom syndrome 2022-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000997166 SCV004034561 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing Reported in a patient with blindness in published literature (Dieiro et al., 2020); clinical information not provided; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28912962, 32483926)

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