ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.1336-1_1345del

dbSNP: rs1836570479
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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 RCV001203251 SCV001374407 uncertain significance not provided 2019-05-29 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) 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. This variant has not been reported in the literature in individuals with SLC34A3-related conditions. This variant is a deletion of the genomic region encompassing part of exon 13 (c.1336-1_1345del) of the SLC34A3 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.

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