ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) (rs768841574)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631312 SCV000752340 uncertain significance Hereditary sensory and autonomic neuropathy type 1 2020-10-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 310 of the SPTLC1 protein (p.Ala310Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs768841574, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in an individual affected with hereditary sensory and autonomic neuropathy (PMID: 22302274). ClinVar contains an entry for this variant (Variation ID: 526710). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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.
Fulgent Genetics,Fulgent Genetics RCV001249816 SCV000897534 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1A 2018-10-31 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790229 SCV000929621 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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