ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys)

gnomAD frequency: 0.00001  dbSNP: rs923816827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246200 SCV001419540 uncertain significance Alstrom syndrome 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 720 of the ALMS1 protein (p.Arg720Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 970604). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001246200 SCV002080447 uncertain significance Alstrom syndrome 2021-04-14 no assertion criteria provided clinical testing

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