ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.95delinsATAAGAGACAGT (p.Ser32fs)

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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. RCV002306876 SCV002603967 likely pathogenic Classic homocystinuria 2022-04-12 criteria provided, single submitter clinical testing NM_000071.2(CBS):c.95del1ins12(S32Yfs*54) is expected to be pathogenic in the context of homocystinuria, CBS-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CBS, 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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