ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val)

dbSNP: rs756716132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226866 SCV001399194 uncertain significance Alstrom syndrome 2022-09-06 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: 954416). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces aspartic acid with valine at codon 781 of the ALMS1 protein (p.Asp781Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine.
Natera, Inc. RCV001226866 SCV002080454 uncertain significance Alstrom syndrome 2020-07-13 no assertion criteria provided clinical testing

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