ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7167G>T (p.Arg2389Ser)

dbSNP: rs1553404408
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560316 SCV000631798 uncertain significance Alstrom syndrome 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159777 SCV003857317 uncertain significance Cardiovascular phenotype 2023-03-03 criteria provided, single submitter clinical testing The p.R2390S variant (also known as c.7170G>T), located in coding exon 8 of the ALMS1 gene, results from a G to T substitution at nucleotide position 7170. The arginine at codon 2390 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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