ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11048_11059del (p.Leu3683_Ser3686del) (rs757734472)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472899 SCV000541354 uncertain significance Alstrom syndrome 2016-07-10 criteria provided, single submitter clinical testing This sequence change deletes 12 nucleotides from exon 16 of the ALMS1 mRNA (c.11048_11059del). This leads to the deletion of 4 amino acid residues in the ALMS1 protein (p.Leu3683_Ser3686del) but otherwise preserves the integrity of the reading frame. The frequency data for this variant (rs757734472) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a ALMS1-related disease. In summary, this variant is a rare in-frame deletion with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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