ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val)

dbSNP: rs1304300872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658369 SCV000780141 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNB1 gene. The D771V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D771V variant is observed in 1/33582 (0.003%) alleles from individuals of Latino background (Lek et al., 2016). The D771V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855375 SCV002276156 likely benign Developmental and epileptic encephalopathy, 26 2022-09-30 criteria provided, single submitter clinical testing

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