ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) (rs368955191)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666136 SCV000790380 uncertain significance Alstrom syndrome 2017-03-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420809 SCV001623186 uncertain significance not specified 2021-04-20 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.4178A>G (p.Gln1393Arg) , refseq NM_015120.4(ALMS1):c.4184A>G (p.Gln1395Arg), results in a conservative amino acid change located in the Alstrom syndrome repeat domain (IPR040972) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 249280 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4178A>G in individuals affected with Alstrom Syndrome With Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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