ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter) (rs1275113273)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537166 SCV000631753 pathogenic Alstrom syndrome 2017-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 352 (p.Arg352*) of the ALMS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This particular variant has been reported in the literature in an individual affected with Alström syndrome (PMID: 25846608) and in an individual with cone-rod dystrophy (PMID: 26992781). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000537166 SCV001135893 pathogenic Alstrom syndrome 2019-05-28 criteria provided, single submitter clinical testing
Counsyl RCV000537166 SCV001132118 likely pathogenic Alstrom syndrome 2017-12-01 no assertion criteria provided clinical testing

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