ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del) (rs1057518311)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413469 SCV000491844 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALMS1 gene. The c.4827_4829delTGA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in the Exome Aggregation Consortium. The c.4827_4829delTGA variant results in the deletion of a non-conserved Aspartic acid residue at codon 1610 in the ALMS1 gene. However, as this is an in-frame deletion, it is not expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. As cardiomyopathy due to pathogenic variants in the ALMS1 gene is an autosomal recessive disease, it is expected that an affected individual would harbor pathogenic variants in both alleles of the ALMS1 gene (in trans). However, no second pathogenic variant was identified by this sequence and deletion/duplication analysis. This result cannot be interpreted for diagnosis or used for family member screening at this time.
Natera, Inc. RCV001276612 SCV001463045 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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