ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5017A>G (p.Ile1673Val)

gnomAD frequency: 0.00001  dbSNP: rs773107767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206831 SCV001378160 uncertain significance Alstrom syndrome 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339528 SCV002642156 uncertain significance Cardiovascular phenotype 2022-06-22 criteria provided, single submitter clinical testing The p.I1674V variant (also known as c.5020A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 5020. The isoleucine at codon 1674 is replaced by valine, an amino acid with highly similar 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.

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