ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10214-4G>A

gnomAD frequency: 0.00001  dbSNP: rs757482053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001502684 SCV001707519 likely benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414218 SCV002672223 uncertain significance Cardiovascular phenotype 2019-08-14 criteria provided, single submitter clinical testing The c.10217-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 15 in the ALMS1 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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