ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.4888C>T (p.Arg1630Trp) (rs201874722)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080781 SCV000541345 benign Alstrom syndrome 2019-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000493173 SCV000581979 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing The R1630W variant of uncertain significance in the ALMS1 gene has not been published as pathogenic or been reported as benign to our knowledge. The R1630W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and 2/3 in silico algorithms predict this variant likely does not alter the protein structure/function. Furthermore, the R1630W variant was observed in 15/6,598 alleles from individuals of European (Finnish) ancestry, 10/66,226 alleles from individuals of European (Non-Finnish) ancestry, and 13/8,600 alleles from individuals of East Asian ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016).

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