ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36_38GGA[21] (p.Glu21_Glu28dup)

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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 RCV001174670 SCV001337888 likely benign not specified 2020-01-06 criteria provided, single submitter clinical testing Variant summary: The ALMS1 variant, c.54_74dup21 (p.Glu22_Glu28dup) is located in a Glu repetitive region (Glu13_Glu28). The variant was absent in 83366 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. No variants located in this Glu repetitive region were reported in HGMD database and other variants (including deletion and duplication) located in this repetitive region were reported in LOVD database and classified as likely benign/benign. In addition, other duplication variants (p.Glu26_Glu28dup, p.Glu23_Glu24dup, p.Glu24dup) located in this Glu repetitive region have been classified as benign by our laboratory. To our knowledge, no occurrence of c.54_74dup21 in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have 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 likely benign.

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