ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7674+5A>G

dbSNP: rs756532322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672232 SCV000797320 uncertain significance Alstrom syndrome 2018-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397354 SCV002672246 uncertain significance Cardiovascular phenotype 2020-03-25 criteria provided, single submitter clinical testing The c.7677+5A>G intronic variant results from an A to G substitution 5 nucleotides after coding exon 9 in the ALMS1 gene. This nucleotide position is not well 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 donor 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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