ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del)

dbSNP: rs764575993
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001365415 SCV001561686 uncertain significance Alstrom syndrome 2022-08-13 criteria provided, single submitter clinical testing This variant, c.12408_12410del, results in the deletion of 1 amino acid(s) of the ALMS1 protein (p.Glu4137del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs764575993, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1056562). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002384524 SCV002673917 uncertain significance Cardiovascular phenotype 2021-10-20 criteria provided, single submitter clinical testing The c.12408_12410delAGA variant (also known as p.E4137del) is located in coding exon 22 of the ALMS1 gene. This variant results from an in-frame AGA deletion at nucleotide positions 12408 to 12410. This results in the in-frame deletion of a glutamic acid at codon 4137. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003946028 SCV004773173 uncertain significance ALMS1-related condition 2023-11-08 criteria provided, single submitter clinical testing The ALMS1 c.12402_12404delAGA variant is predicted to result in an in-frame deletion (p.Glu4135del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0057% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-73835637-GAGA-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001365415 SCV002081416 uncertain significance Alstrom syndrome 2020-12-31 no assertion criteria provided clinical testing

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