ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.864C>T (p.Asp288=) (rs377281121)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000735884 SCV000864104 uncertain significance not specified 2018-03-12 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.861C>T (alternative c.864C>T) alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant is found in the gnomAD database at a frequency of 0.00014. This frequency is not higher than expected for a pathogenic variant in ALMS1 causing Cardiomyopathy (0.00014 vs 0.0022), allowing no conclusion about variant significance. The c.861C>T variant has been reported in the literature in one individual affected with Alstrom syndrome. This report does not provide unequivocal conclusions about an association of the variant with Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000634818 SCV000756162 likely benign Alstrom syndrome 2017-09-12 criteria provided, single submitter clinical testing

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