ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.3640G>A (p.Val1214Ile)

dbSNP: rs750796375
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001725922 SCV001962697 uncertain significance SIN3A-related intellectual disability syndrome due to a point mutation 2021-01-12 criteria provided, single submitter clinical testing Based on allele frequency, in-silico prediction scores and a certain overlap with the clinical phenotype, we interpreted this variant at least as of uncertain significance. The lack of one or more of the following features has discouraged further investigations: lack of a possible second hit in autosomal recessive conditions, presence of healthy controls in databases for autosomal dominant conditions, presence of unmatching cardinal clinical features in the patient or in the known gene-disease association, and/or variant type outside the known gene mutational spectrum.

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