Submissions for variant NM_015120.4(ALMS1):c.1735del (p.Arg579fs) (rs777476179)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000415931	SCV000493279	likely pathogenic	not provided	2016-08-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000668033	SCV000792576	likely pathogenic	Alstrom syndrome	2017-07-10	criteria provided, single submitter	clinical testing
Invitae	RCV000668033	SCV000931494	pathogenic	Alstrom syndrome	2019-02-08	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg579Glyfs*17) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs777476179, ExAC 0.001%). This variant has been observed in an individual affected with Alstrom syndrome (PMID: 24462884). ClinVar contains an entry for this variant (Variation ID: 374506). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge	RCV001003950	SCV001161940	likely pathogenic	Leukodystrophy; Visual impairment; Hearing impairment; Stage 5 chronic kidney disease		no assertion criteria provided	research

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