ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met) (rs375314465)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442292 SCV000533649 uncertain significance not provided 2020-11-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge In silico analysis supports that this missense variant does not alter protein structure/function
Counsyl RCV000670211 SCV000795041 uncertain significance Alstrom syndrome 2017-10-27 criteria provided, single submitter clinical testing
Invitae RCV000670211 SCV001236497 uncertain significance Alstrom syndrome 2020-10-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with methionine at codon 4085 of the ALMS1 protein (p.Arg4085Met). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and methionine. This variant is present in population databases (rs375314465, ExAC 0.02%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 390736). 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: Deleterious; 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.
Natera, Inc. RCV000670211 SCV001455034 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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