ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) (rs187132771)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669480 SCV000794237 uncertain significance Alstrom syndrome 2017-09-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175437 SCV001338988 uncertain significance not specified 2020-03-23 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.2306C>T (p.Pro769Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 248720 control chromosomes (gnomAD). 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.2306C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV001564982 SCV001788234 uncertain significance not provided 2020-06-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 553937; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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