ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) (rs375011895)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668320 SCV000792898 likely benign Alstrom syndrome 2017-08-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000735889 SCV000864117 uncertain significance not specified 2018-11-05 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.6612A>T (alternative name c.6618A>T) alters a non-conserved nucleotide resulting in a synonymous change. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 3.6e-05 in 276418 control chromosomes. This frequency is not higher than expected for a pathogenic variant in ALMS1 causing Cardiomyopathy (3.6e-05 vs 0.0022), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.6612A>T in individuals affected with 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 likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000668320 SCV001676462 likely benign Alstrom syndrome 2020-09-10 criteria provided, single submitter clinical testing

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