ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp)

gnomAD frequency: 0.00001  dbSNP: rs1196949061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002357069 SCV002652544 uncertain significance Cardiovascular phenotype 2022-09-12 criteria provided, single submitter clinical testing The p.A1965D variant (also known as c.5894C>A), located in coding exon 8 of the ALMS1 gene, results from a C to A substitution at nucleotide position 5894. The alanine at codon 1965 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is not well conserved in available 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.
GeneDx RCV003317470 SCV004021604 uncertain significance not provided 2023-07-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001278760 SCV001465792 uncertain significance Alstrom syndrome 2020-08-13 no assertion criteria provided clinical testing

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