ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.446del (p.Pro149fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003801785 SCV004597219 uncertain significance Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 2023-07-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro149Hisfs*103) in the SIX1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 136 amino acid(s) of the SIX1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of branchiootorenal spectrum disorders (Invitae; external communication). It has also been observed to segregate with disease in related individuals. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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