ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11319G>T (p.Glu3773Asp) (rs1019748558)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000735883 SCV000864102 uncertain significance not specified 2017-07-17 criteria provided, single submitter clinical testing Variant summary: The ALMS1 c.11313G>T (p.Glu3771Asp, alternative name c.11319G>T) variant involves the alteration of a non-conserved nucleotide and 4/4 in silico tools (Polyphen not working at time of scoring) predict a benign outcome. However, these predictions have yet to be functionally assessed. This variant is absent in 119880 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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