ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn)

gnomAD frequency: 0.00001  dbSNP: rs776932244
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809323 SCV000949470 uncertain significance Alstrom syndrome 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 68 of the ALMS1 protein (p.Ser68Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 653536). 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.
GeneDx RCV002249520 SCV002520286 uncertain significance not provided 2021-11-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV000809323 SCV002791616 uncertain significance Alstrom syndrome 2021-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000809323 SCV002080373 uncertain significance Alstrom syndrome 2020-03-20 no assertion criteria provided clinical testing

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