ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.7405A>G (p.Ser2469Gly) (rs1007457582)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473231 SCV000541328 uncertain significance Alstrom syndrome 2018-09-14 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 2569 of the ALMS1 protein (p.Ser2469Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ALMS1-related disease. ClinVar contains an entry for this variant (Variation ID: 403925). 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.
Counsyl RCV000473231 SCV000794864 uncertain significance Alstrom syndrome 2017-10-18 criteria provided, single submitter clinical testing

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