ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr)

dbSNP: rs878854995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229320 SCV000290065 uncertain significance Alstrom syndrome 2021-11-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 3756 of the ALMS1 protein (p.Ser3756Thr). 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: 240976). 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 RCV000229320 SCV000798120 uncertain significance Alstrom syndrome 2018-02-26 criteria provided, single submitter clinical testing

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