ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.565del (p.Arg189fs)

dbSNP: rs1582558420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987766 SCV001137212 uncertain significance Oculodentodigital dysplasia 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002550605 SCV003469414 uncertain significance Oculodentodigital dysplasia, autosomal recessive 2022-04-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg189Glufs*35) in the GJA1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 194 amino acid(s) of the GJA1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GJA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 802259). 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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