ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9178G>T (p.Asp3060Tyr) (rs547914710)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001337489 SCV001531092 uncertain significance Alstrom syndrome 2020-01-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 3061 of the ALMS1 protein (p.Asp3061Tyr). The aspartic acid residue is moderate conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is present in population databases (rs547914710, ExAC 0.01%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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