ClinVar Miner

Submissions for variant NM_001014437.3(CARS1):c.1271G>A (p.Arg424His)

gnomAD frequency: 0.00001  dbSNP: rs777861752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Medico-Diagnostic Laboratory Genica RCV001102528 SCV002016190 likely pathogenic Microcephaly, developmental delay, and brittle hair syndrome 2021-10-21 criteria provided, single submitter clinical testing Kuo et al., 2019 (PMID:30824121) performed functional analysis of the variant and classified it as pathogenic for Microcephaly, developmental delay, and brittle hair syndrome (OMIM:618891). The variant was observed in compound heterozygosity with CARS1:c.1108C>T (NM_001751.6), which is described as a variant with uncertain significance.
OMIM RCV001102528 SCV001259206 pathogenic Microcephaly, developmental delay, and brittle hair syndrome 2021-08-12 no assertion criteria provided literature only

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