ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8708C>T (p.Pro2903Leu)

dbSNP: rs2089498194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genomics Discovery Program, Yale University RCV001352889 SCV001501146 likely pathogenic Ataxia-telangiectasia syndrome 2021-03-10 criteria provided, single submitter research The c.8708C>T, p.Pro2903Leu variant in ATM is absent in a large population database with over 250,000 alleles reported (gnomAD). Multiple in silico analyses (e.g. SIFT, PolyPhen, FATHMM, MetaSVM) predicted that the missense change p.Pro2903Leu has a deleterious effect with CADD score=34 or REVEL pathogenicity score=0.887. It was identified in a large family affected with adolescent-onset ataxia in trans with a known pathogenic ATM variant, segregating perfectly for recessive inheritance. Telangiectasias and cancers are not known in this family. These criteria suggest sufficient evidence to report this variant as likely pathogenic.

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