ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn)

gnomAD frequency: 0.00002  dbSNP: rs373378385
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666529 SCV000790834 uncertain significance Alstrom syndrome 2017-04-11 criteria provided, single submitter clinical testing
Invitae RCV000666529 SCV000959581 uncertain significance Alstrom syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 914 of the ALMS1 protein (p.Lys914Asn). This variant is present in population databases (rs373378385, gnomAD 0.007%). 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: 551463). 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. RCV000666529 SCV002080465 uncertain significance Alstrom syndrome 2021-04-16 no assertion criteria provided clinical testing

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