ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr)

gnomAD frequency: 0.00022  dbSNP: rs183839621
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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 RCV000797512 SCV000937072 uncertain significance Alstrom syndrome 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1516 of the ALMS1 protein (p.Ala1516Thr). This variant is present in population databases (rs183839621, gnomAD 0.2%), including at least one homozygous and/or hemizygous individual. 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: 643741). 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.
GeneDx RCV001547204 SCV001766854 uncertain significance not provided 2024-12-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Ambry Genetics RCV002334493 SCV002639930 likely benign Cardiovascular phenotype 2022-05-27 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.

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