ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) (rs574785830)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000609389 SCV000713770 uncertain significance not specified 2017-12-14 criteria provided, single submitter clinical testing The p.His2945Arg variant in ALMS1 has not been previously reported in individual s with hearing loss, but has been identified in 0.14% (42/30780) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinsti tute.org/; dbSNP rs574785830). Although this variant has been seen in the gener al population, its frequency is not high enough to rule out a pathogenic role. C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. In summary, the clinical signific ance of the p.His2945Arg variant is uncertain. ACMG/AMP Criteria applied: None.
Invitae RCV001050820 SCV001214946 uncertain significance Alstrom syndrome 2019-12-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 2947 of the ALMS1 protein (p.His2947Arg). The histidine residue is moderate conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs574785830, ExAC 0.1%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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