ClinVar Miner

Submissions for variant NM_001080442.3(SLC38A8):c.388+5G>A

gnomAD frequency: 0.00014  dbSNP: rs760391436
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434287 SCV000524588 pathogenic not provided 2023-03-24 criteria provided, single submitter clinical testing Reported in the homozygous state in an individual with a clinical diagnosis of Leber congenital amaurosis in published literature, although this individual was also homozygous for a frameshift variant in the PLA2G6 gene (Soens et al., 2017); Published functional studies demonstrate abnormal gene splicing (Soens et al., 2017); This variant is associated with the following publications: (PMID: 28714225, 33594928, 35029636)
Labcorp Genetics (formerly Invitae), Labcorp RCV000434287 SCV003443633 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the SLC38A8 gene. It does not directly change the encoded amino acid sequence of the SLC38A8 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs760391436, gnomAD 0.006%). This variant has been observed in individual(s) with foveal hypoplasia (PMID: 33594928). ClinVar contains an entry for this variant (Variation ID: 383962). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 28714225). 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.
Rui Chen Lab, Baylor College of Medicine RCV000515654 SCV000579411 likely pathogenic Leber congenital amaurosis 2017-05-09 no assertion criteria provided research

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