ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro)

gnomAD frequency: 0.00004  dbSNP: rs370508584
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667086 SCV000791482 uncertain significance Alstrom syndrome 2017-10-09 criteria provided, single submitter clinical testing
Invitae RCV000667086 SCV001505051 uncertain significance Alstrom syndrome 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 2905 of the ALMS1 protein (p.His2905Pro). This variant is present in population databases (rs370508584, gnomAD 0.008%). 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: 551916). 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.
GeneDx RCV001557561 SCV001779339 uncertain significance not provided 2019-04-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002369798 SCV002684164 uncertain significance Cardiovascular phenotype 2021-03-17 criteria provided, single submitter clinical testing The p.H2905P variant (also known as c.8714A>C), located in coding exon 10 of the ALMS1 gene, results from an A to C substitution at nucleotide position 8714. The histidine at codon 2905 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and proline is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000667086 SCV002082920 uncertain significance Alstrom syndrome 2020-12-21 no assertion criteria provided clinical testing

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