ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del) (rs1060500042)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469681 SCV000541362 uncertain significance Alstrom syndrome 2019-05-03 criteria provided, single submitter clinical testing This sequence change deletes 9 nucleotides from exon 8 of the ALMS1 mRNA (c.5907_5915del). This leads to the deletion of 3 amino acid residues in the ALMS1 protein (p.Pro1970_Ser1972del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ALMS1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this variant is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000469681 SCV000799188 uncertain significance Alstrom syndrome 2018-04-06 criteria provided, single submitter clinical testing

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