ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg)

gnomAD frequency: 0.00001  dbSNP: rs776963509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462622 SCV000541358 uncertain significance Alstrom syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 3914 of the ALMS1 protein (p.Ser3914Arg). This variant is present in population databases (rs776963509, 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: 403949). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV000462622 SCV002790372 uncertain significance Alstrom syndrome 2021-09-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000462622 SCV002079028 uncertain significance Alstrom syndrome 2020-10-14 no assertion criteria provided clinical testing

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