ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala)

gnomAD frequency: 0.00001  dbSNP: rs45493191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941416 SCV002224912 uncertain significance Alstrom syndrome 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 3134 of the ALMS1 protein (p.Pro3134Ala). This variant is present in population databases (rs45493191, gnomAD 0.007%). 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: 1442064). 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.
Ambry Genetics RCV002370584 SCV002686441 likely benign Cardiovascular phenotype 2024-04-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV001941416 SCV002789992 uncertain significance Alstrom syndrome 2021-11-23 criteria provided, single submitter clinical testing

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