ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) (rs387906312)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726756 SCV000702798 pathogenic not provided 2016-11-17 criteria provided, single submitter clinical testing
Invitae RCV000004177 SCV000944254 pathogenic Alstrom syndrome 2020-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr3592Lysfs*6) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs387906312, ExAC 0.02%). This variant has been observed in multiple individuals and families affected with ALMS1-related conditions (PMID: 11941370, 11941369, 25846608). ClinVar contains an entry for this variant (Variation ID: 3971). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075440 SCV001241063 pathogenic Retinal dystrophy 2018-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000726756 SCV001783714 pathogenic not provided 2021-01-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 11941370, 11941369, 32503575, 21897446, 28610912, 26704672, 26104972, 26066530, 25846608, 21157496, 17594715)
OMIM RCV000004177 SCV000024343 pathogenic Alstrom syndrome 2007-11-01 no assertion criteria provided literature only
Counsyl RCV000004177 SCV001132116 pathogenic Alstrom syndrome 2017-04-17 no assertion criteria provided clinical testing
Natera, Inc. RCV000004177 SCV001453045 pathogenic Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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