ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4245_4246delinsAA (p.Asp1416Asn)

dbSNP: rs2040548229
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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 RCV001314958 SCV001505511 uncertain significance Fanconi anemia 2020-02-12 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SLX4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 1416 of the SLX4 protein (p.Asp1416Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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