ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3952G>T (p.Gly1318Ter)

dbSNP: rs2466099992
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306783 SCV002602814 likely pathogenic Alstrom syndrome 2022-02-02 criteria provided, single submitter clinical testing NM_015120.4(ALMS1):c.3955G>T(G1319*) is expected to be pathogenic in the context of Alstrom syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ALMS1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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