ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11801G>A (p.Arg3934His) (rs45576434)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668429 SCV000793028 uncertain significance Alstrom syndrome 2017-07-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000735891 SCV000864122 uncertain significance not specified 2017-01-03 criteria provided, single submitter clinical testing Variant summary: The ALMS1 c.11795G>A (p.Arg3932His, alternative name c.11801G>A) variant involves the alteration of a non-conserved nucleotide, which 3/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 4/120564 (1/30120), which does not exceed the estimated maximal expected allele frequency for a pathogenic ALMS1 variant of 1/447. A publication cites the variant to have been found in a cohort of Alstrom syndrome patients, however, co-occurrence and cosegregation data was not provided. The variant of interest has not been reported by clinical diagnostic laboratories or databases, to our knowledge. Therefore, due to the limited available information (ie, lack of clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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