ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11629A>G (p.Asn3877Asp) (rs377130177)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665728 SCV000789894 uncertain significance Alstrom syndrome 2017-03-22 criteria provided, single submitter clinical testing
Invitae RCV000665728 SCV000957733 uncertain significance Alstrom syndrome 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 3877 of the ALMS1 protein (p.Asn3877Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs377130177, ExAC 0.04%). This variant has been observed along with two other variants in the same ALMS1 gene in individuals with clinical features of ALMS1-related disease (PMID: 25468891, Invitae). This variant is also known as c.11623A>G, p.Asn3875Asp in the literature. ClinVar contains an entry for this variant (Variation ID: 550857) Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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