ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.9620C>T (p.Thr3207Ile) (rs201624771)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520907 SCV000618407 uncertain significance not specified 2017-11-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALMS1 gene. The T3207I variant has not been published as pathogenic or been reported as benign to our knowledge. This variant was observed in 74/10148 (0.7%) alleles from individuals of Ashkenazi Jewish ancestry in large population cohorts (Lek et al., 2016). Nonetheless, the T3207I 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, and this substitution occurs at a position that is conserved in mammals. Finally, in silico analysis predicts this variant is probably damaging to the protein structure/function.
Invitae RCV000634828 SCV000756172 likely benign Alstrom syndrome 2017-10-18 criteria provided, single submitter clinical testing

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