ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)

gnomAD frequency: 0.00013  dbSNP: rs200441305
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479594 SCV000573210 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001085744 SCV000756167 likely benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383930 SCV002691260 uncertain significance Cardiovascular phenotype 2021-02-22 criteria provided, single submitter clinical testing The p.D3295H variant (also known as c.9883G>C), located in coding exon 12 of the ALMS1 gene, results from a G to C substitution at nucleotide position 9883. The aspartic acid at codon 3295 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly 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.
Natera, Inc. RCV001085744 SCV001459594 uncertain significance Alstrom syndrome 2020-01-24 no assertion criteria provided clinical testing

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