ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) (rs573748379)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766679 SCV000582073 uncertain significance not provided 2021-04-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000494528 SCV000864098 uncertain significance not specified 2017-03-06 criteria provided, single submitter clinical testing Variant summary: The ALMS1 c.10351A>G (p.Asn3451Asp, alternative name c.10357A>G) variant involves the alteration of a non-conserved nucleotide and is predicted to be benign by 4/4 in silico tools (SNPs&GO not captured due to low reliability index). It is located outside of some of known domains and repeats in ALMS1 protein (InterPro, UniProt). This variant was found in 6/117580 control chromosomes at a frequency of 0.000051, which does not exceed the estimated maximal expected allele frequency of a pathogenic ALMS1 variant (0.0022361). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Natera, Inc. RCV001271700 SCV001453043 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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