ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser)

gnomAD frequency: 0.00002  dbSNP: rs769100528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068779 SCV001233911 uncertain significance Alstrom syndrome 2022-03-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3259 of the ALMS1 protein (p.Gly3259Ser). This variant is present in population databases (rs769100528, gnomAD 0.02%). 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: 862117). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001068779 SCV001453036 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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