ClinVar Miner

Submissions for variant NM_001375567.1(FOCAD):c.758G>A (p.Ser253Asn)

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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 RCV005190397 SCV005819145 uncertain significance not provided 2024-08-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 253 of the FOCAD protein (p.Ser253Asn). This variant is present in population databases (rs199678370, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FOCAD-related conditions. 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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