ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11768A>G (p.Asn3923Ser) (rs199874928)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489710 SCV000577107 uncertain significance not provided 2018-12-17 criteria provided, single submitter clinical testing The N3923S variant of uncertain significance in the ALMS1 gene has not been published as pathogenic or been reported as benign to our knowledge. However, the N3923S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. 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 Exome Aggregation Consortium (ExAC) reports the N3923S variant was observed in 22/9,858 (0.2%) alleles from individuals of African ancestry (Lek et al., 2016).
Invitae RCV000634825 SCV000756169 likely benign Alstrom syndrome 2017-10-26 criteria provided, single submitter clinical testing

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