ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1432+4C>T

gnomAD frequency: 0.00003  dbSNP: rs200933935
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666778 SCV000791131 uncertain significance Alstrom syndrome 2017-05-03 criteria provided, single submitter clinical testing
GeneDx RCV001546882 SCV001766480 likely benign not provided 2018-08-30 criteria provided, single submitter clinical testing
Invitae RCV000666778 SCV002143434 uncertain significance Alstrom syndrome 2022-07-22 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the ALMS1 gene. It does not directly change the encoded amino acid sequence of the ALMS1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200933935, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 551657). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002388174 SCV002696227 uncertain significance Cardiovascular phenotype 2021-03-04 criteria provided, single submitter clinical testing The c.1435+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 7 in the ALMS1 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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