ClinVar Miner

Submissions for variant NM_025257.3(SLC44A4):c.1038-6C>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003567914 SCV004309944 likely benign not provided 2024-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756523 SCV005341914 uncertain significance SLC44A4-related disorder 2024-09-06 no assertion criteria provided clinical testing The SLC44A4 c.1038-6C>G variant is predicted to interfere with splicing. This variant is predicted to alter splicing based on available splicing prediction software (SpliceAI, Jaganathan et al. 2019. PubMed ID: 30661751). However, the use of computer prediction softwares is not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.035% of alleles in individuals of Latino descent in gnomAD, which may be too high for causative variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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