ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.3571A>G (p.Thr1191Ala) (rs772287164)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431650 SCV000530296 uncertain significance not provided 2016-08-03 criteria provided, single submitter clinical testing The T1191A variant of uncertain significance in the ALMS1 gene has not been published as a pathogenic or benign variant to our knowledge. This variant was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or with any significant frequency in the Exome Aggregation Consortium, indicating it is not a common benign variant in these populations. The T1191A variant has been identified in one other individual referred for genetic testing at GeneDx; however, they were not found to harbor a second variant in ALMS1. The T1191A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Nevertheless, this substitution occurs at a position that is not conserved, and A1191 is tolerated in at least one species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Fulgent Genetics,Fulgent Genetics RCV000765699 SCV000897043 uncertain significance Alstrom syndrome 2018-10-31 criteria provided, single submitter clinical testing

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