ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg)

dbSNP: rs772417159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001325975 SCV001516987 uncertain significance Alstrom syndrome 2022-07-19 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1025636). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 2563 of the ALMS1 protein (p.Ser2563Arg).
Fulgent Genetics, Fulgent Genetics RCV001325975 SCV002813367 uncertain significance Alstrom syndrome 2021-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001325975 SCV002082881 uncertain significance Alstrom syndrome 2020-07-29 no assertion criteria provided clinical testing

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