ClinVar Miner

Submissions for variant NM_004539.4(NARS1):c.644G>T (p.Gly215Val)

gnomAD frequency: 0.00001  dbSNP: rs2051570122
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837289 SCV002097811 uncertain significance Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 2021-02-10 criteria provided, single submitter clinical testing The c.644G>T, p.Gly215Val missense variant identified in NARS1 has not been reported in the literature. This variant is absent in the gnomAD v3.1database, indicating this is a rare allele and in silico analysis predicts deleterious effect [PMID:27268795]. The position is strongly conserved (GERP++ = 6.17). Based on the available evidence, the missense variant c.644G>T, p.Gly215Val in the NARS1 gene is classified as a Variant of Uncertain Significance.

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