ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)

gnomAD frequency: 0.00001  dbSNP: rs1250097723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591899 SCV001816044 pathogenic Leber congenital amaurosis 2021-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001866158 SCV002213600 pathogenic Alstrom syndrome 2023-10-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 3607 of the ALMS1 protein (p.Arg3607Trp). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with Alström syndrome and/or Leber congenital amaurosis (PMID: 26633542, 31630094, 31755649, 32531870, 36162988). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as p.R3607* . ClinVar contains an entry for this variant (Variation ID: 1213956). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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