ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) (rs200992340)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669927 SCV000794727 uncertain significance Alstrom syndrome 2017-10-16 criteria provided, single submitter clinical testing
Invitae RCV000669927 SCV001414576 uncertain significance Alstrom syndrome 2020-08-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 3552 of the ALMS1 protein (p.Asn3552Asp). 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 (rs200992340, ExAC 0.05%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 554315). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Not Available; Align-GVGD: Class C0). 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.
GeneDx RCV001662737 SCV001873532 uncertain significance not provided 2021-07-11 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; This variant is associated with the following publications: (PMID: 27535533)

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