Submissions for variant NM_015120.4(ALMS1):c.5717T>G (p.Phe1906Cys) (rs1553404125)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000634788	SCV000756131	uncertain significance	Alstrom syndrome	2017-12-18	criteria provided, single submitter	clinical testing	This sequence change replaces phenylalanine with cysteine at codon 1906 of the ALMS1 protein (p.Phe1906Cys). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and cysteine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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.

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