ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.9883G>C (p.Asp3295His) (rs200441305)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479594 SCV000573210 uncertain significance not provided 2018-10-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALMS1 gene. The D3295H variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 38/276968 (0.01%) alleles from individuals of multiple ethnic backgrounds in large population cohorts (Lek et al., 2016). The D3295H 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, while some missense variants have been reported in association with Alstrom syndrome, most pathogenic variants in ALMS1 reported to date are predicted to cause premature protein truncation (Marshall et al., 2012; Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV000634823 SCV000756167 likely benign Alstrom syndrome 2017-10-10 criteria provided, single submitter clinical testing

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